rs138119149 in AARS2;TMEM151B gene and Dysmorphic features

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 21549344 2011 Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.

PMID 22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

PMID 24808023 2014 Novel (ovario) leukodystrophy related to AARS2 mutations.

rs267604368 in ACAN gene and Dysmorphic features

PMID 12205105 2002 Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.

PMID 17317784 2007 Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants.

PMID 12626230 2003 Osteoarthritis of the hands, hips and knees in an Australian twin sample--evidence of association with the aggrecan VNTR polymorphism.

PMID 16080123 2005 A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.

PMID 20137779 2010 A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.

PMID 18226555 2008 Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature.

PMID 19110214 2009 A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

PMID 27870580 2017 Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

PMID 1978986 1990 Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.

PMID 21948754 2011 Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients.

PMID 24762113 2014 Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.

rs1553255354 in ACTA1 gene and Dysmorphic features

PMID 16967490 2007 Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.

PMID 19562689 2009 Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

PMID 26507755 2015 Review of Cardiac Disease in Nemaline Myopathy.

PMID 12601110 2003 Clinical course correlates poorly with muscle pathology in nemaline myopathy.

PMID 15468086 2004 Actin mutations are one cause of congenital fibre type disproportion.

PMID 23650303 2013 Nemaline myopathy with dilated cardiomyopathy in childhood.

PMID 15236405 2004 Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

PMID 11333380 2001 Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

PMID 25890230 2015 Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.

rs104894003 in ACTB gene and Dysmorphic features

PMID 22495914 2012 Clinical and molecular characterization of a second case of 7p22.1 microduplication.

PMID 25156961 2015 Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.

PMID 16685646 2006 A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

PMID 10411937 1999 A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.

PMID 27240540 2016 Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

PMID 23756437 2014 Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

PMID 27868373 2017 Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

PMID 23649928 2013 Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

rs1555666392 in ACTG1 gene and Dysmorphic features

PMID 27240540 2016 Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

PMID 9665849 1998 Domain motions in actin.

PMID 28496999 2017 The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.

PMID 25624931 2015 Baraitser and Winter syndrome with growth hormone deficiency.

PMID 27625340 2017 Baraitser-Winter cerebrofrontofacial syndrome.

PMID 2395459 1990 Atomic structure of the actin:DNase I complex.

PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

PMID 26188271 2015 Rare ACTG1 variants in fetal microlissencephaly.

PMID 19419963 2009 Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PMID 13680526 2003 Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

PMID 28493397 2017 A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

PMID 15194427 2004 A novel role for non-muscle gamma-actin in skeletal muscle sarcomere assembly.

rs864309483 in ADCY5 gene and Dysmorphic features

PMID 27052971 2016 Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

PMID 27061943 2016 Phenotypic insights into ADCY5-associated disease.

PMID 24700542 2014 Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

PMID 26085604 2015 ADCY5 mutations are another cause of benign hereditary chorea.

PMID 26686870 2016 ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

PMID 12665504 2003 Motor dysfunction in type 5 adenylyl cyclase-null mice.

PMID 25790160 2015 A genome sequencing program for novel undiagnosed diseases.

PMID 28511835 2017 ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.

PMID 25193033 2014 Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases.

PMID 22539851 2012 Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia.

PMID 8429907 1993 Cloning and expression of an adenylyl cyclase localized to the corpus striatum.

PMID 23449625 2013 Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

PMID 22782511 2012 Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

PMID 8415621 1993 Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies.

PMID 8511718 1993 Discrete expression of Ca2+/calmodulin-sensitive and Ca(2+)-insensitive adenylyl cyclases in the rat brain.

PMID 28229249 2017 ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

PMID 26537056 2015 ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

PMID 1618857 1992 Isolation and characterization of a novel cardiac adenylylcyclase cDNA.

PMID 10051231 1999 D1- and D2-like dopamine receptors are co-localized on the presynaptic varicosities of striatal and nucleus accumbens neurons in vitro.

PMID 25379658 2014 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models.

PMID 12503609 2003 Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms.

PMID 12223546 2002 Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase.

rs142684762 in ADGRG1 gene and Dysmorphic features

PMID 24531968 2014 Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.

PMID 19016831 2009 Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.

PMID 25607655 2015 The adhesion G protein-coupled receptor GPR56 is a cell-autonomous regulator of oligodendrocyte development.

PMID 25642806 2015 Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.

PMID 20929962 2010 GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

PMID 21349848 2011 Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms.

PMID 21708946 2011 The N terminus of the adhesion G protein-coupled receptor GPR56 controls receptor signaling activity.

PMID 16240336 2005 Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

PMID 23981349 2014 Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria.

PMID 12730993 2003 Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

rs1057518345 in ADNP gene and Dysmorphic features

PMID 28221363 2017 Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.

PMID 27031564 2016 Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

PMID 25057125 2014 Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 26845707 2016 Comprehensive molecular testing in patients with high functioning autism spectrum disorder.

PMID 24531329 2014 A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

PMID 26637798 2015 Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

PMID 25169753 2014 The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

PMID 11013255 2001 Cloning and characterization of the human activity-dependent neuroprotective protein.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

rs587776935 in AKT3 gene and Dysmorphic features

PMID 21159799 2011 A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice.

PMID 10208883 1999 Identification of a human Akt3 (protein kinase B gamma) which contains the regulatory serine phosphorylation site.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 28190287 2017 A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.

PMID 25523067 2015 Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.

PMID 15627943 2004 Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

rs368820286 in ALDH7A1 gene and Dysmorphic features

PMID 8913181 1996 Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient.

PMID 20554659 2010 Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

PMID 19142996 2009 Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

PMID 18762976 2009 Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.

PMID 16491085 2006 Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

PMID 17088338 2007 Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.

PMID 17068770 2007 Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

PMID 16159904 2005 Epidemiology of pyridoxine dependent seizures in the Netherlands.

PMID 23350806 2013 Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.

rs267606653 in ALX4 gene and Dysmorphic features

PMID 22829454 2012 ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

PMID 19692347 2009 ALX4 dysfunction disrupts craniofacial and epidermal development.

PMID 11137991 2001 Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

PMID 16319823 2006 Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

PMID 11017806 2000 Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

PMID 11106354 2000 The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).

rs137852217 in AMER1 gene and Dysmorphic features

PMID 19079258 2009 Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

PMID 20679664 2010 WTX mutations can occur both early and late in the pathogenesis of Wilms tumour.

PMID 20209645 2010 Osteopathia striata with cranial sclerosis owing to WTX gene defect.

PMID 20950377 2011 Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

PMID 7004677 1980 Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases.

PMID 22043478 2011 The male phenotype in osteopathia striata congenita with cranial sclerosis.

PMID 28497491 2017 Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

PMID 8723089 1996 Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.

rs1221781038 in ANKRD11 gene and Dysmorphic features

PMID 15523620 2004 KBG syndrome in a cohort of Italian patients.

PMID 21782149 2011 Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

PMID 23494856 2013 Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.

PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

PMID 17230487 2007 KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.

PMID 25652421 2016 Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

PMID 17508425 2007 Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

PMID 28422132 2017 Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

PMID 27667800 2016 Clinical and genetic aspects of KBG syndrome.

PMID 23184435 2013 Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.

PMID 17163996 2006 KBG syndrome.

PMID 25413698 2015 Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

PMID 15184363 2004 Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.

PMID 23885231 2013 Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.

PMID 25125236 2014 Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

PMID 25424714 2015 Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

PMID 27435318 2016 Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

rs1555904596 in ANOS1 gene and Dysmorphic features

PMID 11390716 2001 Multicystic dysplastic kidney and Kallmann's syndrome: a new association?

PMID 10340754 1999 Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome.

PMID 1913827 1991 The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.

PMID 7820942 1994 Unilateral renal aplasia in X-linked Kallmann's syndrome.

PMID 25300141 2014 The adhesion molecule anosmin-1 in neurology: Kallmann syndrome and beyond.

PMID 15471890 2004 The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.

PMID 1922361 1991 A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.

rs1553259463 in AP4B1 gene and Dysmorphic features

PMID 23167973 2013 Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.

PMID 19559397 2009 Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

PMID 20972249 2011 Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

PMID 24700674 2014 Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

PMID 23472171 2013 A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

PMID 24395635 2014 Adaptor proteins involved in polarized sorting.

PMID 25552650 2015 Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

PMID 25693842 2016 Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

PMID 22290197 2012 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

rs1335804396 in AP4S1 gene and Dysmorphic features

PMID 25552650 2015 Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

PMID 24700674 2014 Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

PMID 27444738 2016 Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.

PMID 23472171 2013 A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

PMID 23167973 2013 Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.

PMID 20972249 2011 Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

PMID 24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

PMID 19559397 2009 Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

PMID 24395635 2014 Adaptor proteins involved in polarized sorting.

PMID 28150420 2017 A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.

rs1554226131 in ARID1B gene and Dysmorphic features

PMID 11170086 2001 Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

PMID 16691594 2006 Autosomal dominant syndrome resembling Coffin-Siris syndrome.

PMID 25674384 2015 ARID1B-mediated disorders: Mutations and possible mechanisms.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 25169814 2014 The ARID1B phenotype: what we have learned so far.

PMID 22405089 2012 Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

PMID 6499251 1984 The Coffin-Siris syndrome: report of a family and further delineation.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 24674232 2014 Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 27389779 2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

PMID 28867767 2017 Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice.

PMID 26395437 2016 Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

PMID 26376624 2015 De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

PMID 21801163 2012 Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.

PMID 24569609 2014 Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

PMID 20086098 2010 Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

rs1555155263 in ARID2;LOC105369745 gene and Dysmorphic features

PMID 15985610 2005 PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes.

PMID 26238514 2015 Mutations in ARID2 are associated with intellectual disabilities.

PMID 28124119 2017 Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.

PMID 28884947 2017 Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.

rs1556055108 in ARX gene and Dysmorphic features

PMID 22252899 2012 Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.

PMID 10398246 1999 Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.

PMID 25044608 2014 Whole ARX gene duplication is compatible with normal intellectual development.

PMID 27781032 2016 Genetic Basis of Brain Malformations.

PMID 20506206 2010 ARX spectrum disorders: making inroads into the molecular pathology.

PMID 3177452 1988 X-linked mental retardation with dystonic movements of the hands.

PMID 28150386 2017 An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

PMID 19439424 2009 Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.

PMID 23246292 2013 A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.

PMID 1605226 1992 New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.

PMID 17668384 2007 A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).

PMID 12379852 2002 Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.

PMID 11971879 2002 ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

PMID 14722918 2004 Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

rs1189399471 in ASPM gene and Dysmorphic features

PMID 15806441 2005 Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

PMID 19028728 2009 The molecular landscape of ASPM mutations in primary microcephaly.

PMID 18452193 2008 Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

PMID 19332161 2009 Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

PMID 16141009 2005 ASPM mutations identified in patients with primary microcephaly and seizures.

PMID 20978018 2010 A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

PMID 22775483 2013 Genetic heterogeneity in Pakistani microcephaly families.

PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

PMID 27250695 2016 Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

rs1427299519 in ASXL1 gene and Dysmorphic features

PMID 25921057 2015 Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

PMID 21368916 2011 Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

PMID 22436456 2012 Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.

PMID 26364555 2015 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

PMID 22419483 2012 Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

rs1555742087 in ASXL3 gene and Dysmorphic features

PMID 28955728 2017 Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

PMID 24044690 2013 De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.

PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

PMID 23383720 2013 De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.

PMID 26647312 2016 De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 27901041 2017 Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

PMID 28100473 2017 Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

rs1303653650 in ATP13A2 gene and Dysmorphic features

PMID 20683840 2010 Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.

PMID 20853184 2011 Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.

PMID 17485642 2007 ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

PMID 16964263 2006 Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

PMID 25149416 2014 Correlation between the biochemical pathways altered by mutated parkinson-related genes and chronic exposure to manganese.

PMID 25197640 2014 Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.

PMID 22198378 2012 ATP13A2 regulates mitochondrial bioenergetics through macroautophagy.

PMID 22388936 2012 Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

PMID 21060012 2010 Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.

PMID 21665991 2011 Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.

rs1555859157 in ATP1A3 gene and Dysmorphic features

PMID 8496742 1993 Alternating hemiplegia of childhood.

PMID 25656163 2015 Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

PMID 28293679 2017 Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

PMID 26297560 2015 Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

PMID 29184165 2017 ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.

PMID 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

PMID 24468074 2014 A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

PMID 16632466 2006 Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms.

PMID 26410222 2015 Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

PMID 2842249 1988 Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes.

PMID 23483595 2013 The multiple faces of the ATP1A3-related dystonic movement disorder.

PMID 24996492 2014 Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.

PMID 27091223 2016 The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

PMID 25996915 2015 Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

PMID 22842232 2012 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

PMID 22534615 2012 New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

PMID 24436111 2014 Cognitive impairment in rapid-onset dystonia-parkinsonism.

PMID 25359261 2015 Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.

PMID 24739246 2014 Distinct neurological disorders with ATP1A3 mutations.

PMID 19652145 2009 Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

PMID 25895915 2015 CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

PMID 24123283 2014 Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

PMID 22850527 2012 Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

PMID 22924536 2012 ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

PMID 22933743 2012 Psychiatric disorders in rapid-onset dystonia-parkinsonism.

PMID 11020638 2000 Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.

PMID 15260953 2004 Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

rs122445110 in ATRX gene and Dysmorphic features

PMID 10417298 1999 Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

PMID 10398237 1999 Carpenter-Waziri syndrome results from a mutation in XNP.

PMID 19005673 2009 ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells.

PMID 28371197 2017 A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.

PMID 24805811 2015 Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

PMID 16813605 2006 Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

PMID 16722615 2006 Alpha thalassaemia-mental retardation, X linked.

PMID 28371217 2017 Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

PMID 11015451 2000 ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

PMID 24289169 2014 Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.

PMID 12858175 2003 Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).

PMID 10602370 1999 Germline and gonosomal mosaicism in the ATR-X syndrome.

PMID 1415255 1992 X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

PMID 11050622 2000 Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

PMID 12032728 2002 Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

PMID 18409179 2008 Mutations in the chromatin-associated protein ATRX.

PMID 12116232 2002 Expanding phenotype of XNP mutations: mild to moderate mental retardation.

PMID 10570185 1999 Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.

PMID 21653732 2011 Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.

PMID 12673795 2003 Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

PMID 16118346 2006 X linked mental retardation: a clinical guide.

rs748318386 in AUH gene and Dysmorphic features

PMID 16354225 2005 A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I.

PMID 20855850 2010 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.

PMID 12655555 2003 Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.

PMID 15033206 2004 3-methylglutaconic aciduria type I in a boy with fever-associated seizures.

rs1557100594 in AVPR2 gene and Dysmorphic features

PMID 26131744 2015 Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.

PMID 22427315 2012 Congenital nephrogenic diabetes insipidus: the current state of affairs.

PMID 26077742 2015 Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.

PMID 18584216 2008 Long-term growth of children with nephrogenic diabetes insipidus.

PMID 22386940 2012 Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.

PMID 20459358 2010 Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.

PMID 10477148 1999 Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus.

PMID 15129813 2004 A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus.

PMID 15872203 2005 Nephrogenic syndrome of inappropriate antidiuresis.

rs757347274 in B3GALNT2 gene and Dysmorphic features

PMID 24084573 2014 B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.

PMID 23453667 2013 Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

rs745744124 in B4GALNT1 gene and Dysmorphic features

PMID 24103911 2013 Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

PMID 24283893 2014 Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia.

PMID 23746551 2013 Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

rs567573386 in BBS2 gene and Dysmorphic features

PMID 17574030 2007 A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 22713813 2013 Bardet-Biedl syndrome.

rs1553352926 in BCL11A gene and Dysmorphic features

PMID 28960836 2018 BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.

PMID 28589569 2018 Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.

PMID 27453576 2016 BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

PMID 25979662 2016 Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25938782 2015 BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

PMID 15548577 2004 The COUP-TF nuclear receptors regulate cell migration in the mammalian basal forebrain.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 20623620 2010 X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth.

PMID 22491945 2012 Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development.

PMID 23230003 2012 Bcl11a is essential for lymphoid development and negatively regulates p53.

PMID 12717432 2003 Bcl11a is essential for normal lymphoid development.

PMID 17021036 2006 COUP-TFI is required for the formation of commissural projections in the forebrain by regulating axonal growth.

PMID 17964244 2007 Area patterning of the mammalian cortex.

PMID 26182416 2015 Bcl11a (Ctip1) Controls Migration of Cortical Projection Neurons through Regulation of Sema3c.

PMID 15465497 2004 CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis.

PMID 19616629 2009 Bcl11A/CTIP1 regulates expression of DCC and MAP1b in control of axon branching and dendrite outgrowth.

PMID 16704730 2006 Functional studies of BCL11A: characterization of the conserved BCL11A-XL splice variant and its interaction with BCL6 in nuclear paraspeckles of germinal center B cells.

PMID 11347906 2001 Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PMID 24810580 2014 De novo microdeletion of BCL11A is associated with severe speech sound disorder.

PMID 10744719 2000 Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors.

PMID 12196208 2002 COUP-TF (chicken ovalbumin upstream promoter transcription factor)-interacting protein 1 (CTIP1) is a sequence-specific DNA binding protein.

PMID 11161790 2000 Human EVI9, a homologue of the mouse myeloid leukemia gene, is expressed in the hematopoietic progenitors and down-regulated during myeloid differentiation of HL60 cells.

rs1314314373 in BCL11B gene and Dysmorphic features

PMID 23112752 2012 Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.

PMID 24458984 2014 TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

PMID 23144223 2012 A network of genetic repression and derepression specifies projection fates in the developing neocortex.

PMID 25511173 2015 BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development.

PMID 26453795 2016 BCL11B regulates sutural patency in the mouse craniofacial skeleton.

PMID 25232744 2014 De novo TBR1 mutations in sporadic autism disrupt protein functions.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 21912641 2011 Genome-wide identification of Bcl11b gene targets reveals role in brain-derived neurotrophic factor signaling.

PMID 22629441 2012 BCL11B regulates epithelial proliferation and asymmetric development of the mouse mandibular incisor.

PMID 22450536 2012 Role of the transcription factor Bcl11b in development and lymphomagenesis.

PMID 19092943 2009 Dual role of COUP-TF-interacting protein 2 in epidermal homeostasis and permeability barrier formation.

PMID 21878675 2011 The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia.

PMID 19251658 2009 Ctip2/Bcl11b controls ameloblast formation during mammalian odontogenesis.

PMID 15664173 2005 Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo.

PMID 16091750 2005 BCL11B functionally associates with the NuRD complex in T lymphocytes to repress targeted promoter.

PMID 18831712 2009 BCL11B enhances TCR/CD28-triggered NF-kappaB activation through up-regulation of Cot kinase gene expression in T-lymphocytes.

PMID 17631058 2007 Expression of COUP-TF-interacting protein 2 (CTIP2) in mouse skin during development and in adulthood.

PMID 15465497 2004 CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis.

PMID 12565905 2003 Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas.

rs753044214 in BPTF gene and Dysmorphic features

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

PMID 26014595 2015 ClinGen--the Clinical Genome Resource.

PMID 9225734 1997 FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord.

PMID 8521501 1995 Purification and properties of an ATP-dependent nucleosome remodeling factor.

PMID 24700502 2014 Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.

PMID 27513193 2017 Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

PMID 19713963 2009 The ISWI-containing NURF complex regulates the output of the canonical Wingless pathway.

PMID 18974875 2008 Essential role of chromatin remodeling protein Bptf in early mouse embryos and embryonic stem cells.

PMID 16774993 2006 C. elegans ISWI and NURF301 antagonize an Rb-like pathway in the determination of multiple cell fates.

PMID 18794365 2008 Transcriptional regulator BPTF/FAC1 is essential for trophoblast differentiation during early mouse development.

PMID 14609955 2003 Isolation of human NURF: a regulator of Engrailed gene expression.

PMID 18848651 2009 A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.

PMID 22166941 2012 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.

PMID 22366787 2012 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

PMID 11583616 2001 Dual functions of largest NURF subunit NURF301 in nucleosome sliding and transcription factor interactions.

PMID 18334252 2008 The nucleosome remodeling factor (NURF) regulates genes involved in Drosophila innate immunity.

PMID 16264191 2005 The Drosophila nucleosome remodeling factor NURF is required for Ecdysteroid signaling and metamorphosis.

PMID 16728978 2006 Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF.

rs180177035 in BRAF gene and Dysmorphic features

PMID 5771505 1969 Multiple lentigenes syndrome.

PMID 4386970 1968 Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.

PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

PMID 16825433 2006 The cardiofaciocutaneous syndrome.

PMID 18039235 2007 Neurological complications of cardio-facio-cutaneous syndrome.

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

PMID 23875798 2013 The RASopathies.

rs730880324 in BRAT1 gene and Dysmorphic features

PMID 26535877 2015 Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

PMID 27282648 2016 BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

PMID 28635423 2017 Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.

PMID 26494257 2016 BRAT1-related disease--identification of a patient without early lethality.

PMID 27480663 2016 BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.

PMID 27282546 2016 BRAT1 mutations present with a spectrum of clinical severity.

PMID 23035047 2012 Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 16452482 2006 ATM activation by ionizing radiation requires BRCA1-associated BAAT1.

rs80359388 in BRCA2 gene and Dysmorphic features

PMID 16141007 2005 Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.

PMID 12677558 2003 Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.

PMID 16825431 2007 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

PMID 15796958 2005 BRCA1 and pancreatic cancer: pedigree findings and their causal relationships.

PMID 9497246 1998 Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.

PMID 15197194 2004 Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.

PMID 18042939 2007 Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.

PMID 21568838 2011 Fanconi anemia: at the crossroads of DNA repair.

PMID 21952622 2011 BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients.

PMID 17416853 2007 Meta-analysis of BRCA1 and BRCA2 penetrance.

rs1553693712 in BRPF1 gene and Dysmorphic features

PMID 27939639 2017 Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

PMID 27939640 2017 Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

rs80338686 in BTD gene and Dysmorphic features

PMID 22241090 2012 "Biotinidase deficiency: ""if you have to have an inherited metabolic disease, this is the one to have""."

PMID 13680408 2003 A case of partial biotinidase deficiency associated with autism.

PMID 26577040 2016 Clinical utility gene card for: Biotinidase deficiency-update 2015.

PMID 22698809 2012 Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.

PMID 11668630 2001 Mutations in BTD causing biotinidase deficiency.

PMID 27657684 2017 Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.

PMID 9654207 1998 Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

PMID 17382128 2007 Hearing loss in biotinidase deficiency: genotype-phenotype correlation.

PMID 27014582 2016 First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice.

PMID 26810761 2016 Forty-eight novel mutations causing biotinidase deficiency.

rs1057520918 in CACNA1A gene and Dysmorphic features

PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

PMID 20233618 2010 A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.

PMID 20156848 2010 Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

PMID 16595610 2006 C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.

PMID 23771276 2013 The International Classification of Headache Disorders, 3rd edition (beta version).

PMID 23441182 2013 Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

PMID 20204399 2010 CaV2.1 channelopathies.

PMID 19811514 2010 Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.

PMID 16043807 2005 New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.

PMID 21183743 2011 Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.

PMID 20682717 2010 A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

PMID 22249839 2012 Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

PMID 1564484 1992 Familial paroxysmal ataxia: report of a family.

PMID 20129625 2010 Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

PMID 15483044 2004 Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

PMID 12707077 2003 Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

PMID 20097664 2010 Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

PMID 11723274 2001 Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.

PMID 18498393 2008 CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.

PMID 18940563 2008 Stepwise developmental regression associated with novel CACNA1A mutation.

PMID 15300451 2004 Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.

PMID 19484318 2009 The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.

PMID 18541804 2008 Large CACNA1A deletion in a family with episodic ataxia type 2.

PMID 17575281 2007 Primary episodic ataxias: diagnosis, pathogenesis and treatment.

PMID 11564488 2001 Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.

PMID 17142831 2007 The genetic spectrum of a population-based sample of familial hemiplegic migraine.

PMID 15710862 2005 Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.

PMID 16325861 2006 Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.

PMID 17495624 2007 Migraine: gene mutations and functional consequences.

PMID 9879686 1998 Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.

PMID 11179022 2001 Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 23831250 2013 Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.

PMID 9005860 1997 Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.

PMID 9436730 1998 Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

PMID 14718690 2004 Clinical spectrum of episodic ataxia type 2.

PMID 25758715 2015 Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

PMID 8898206 1996 Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.

PMID 8988170 1997 Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

PMID 26814174 2016 Eye movement disorders are an early manifestation of CACNA1A mutations in children.

PMID 9559993 1998 SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.

PMID 9302278 1997 Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

PMID 3358708 1988 Magnetic resonance imaging in familial paroxysmal ataxia.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 28742085 2017 Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

PMID 9403487 1997 Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

rs1553238271 in CAMTA1 gene and Dysmorphic features

PMID 24738973 2015 Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.

PMID 17470457 2007 Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.

PMID 24145135 2014 Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.

PMID 25049392 2014 Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor.

PMID 16678093 2006 The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases.

PMID 17537720 2007 A potential dimerization region of dCAMTA is critical for termination of fly visual response.

PMID 22031302 2011 Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

PMID 22693284 2012 Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

rs1555977248 in CASK gene and Dysmorphic features

PMID 23623288 2014 A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.

PMID 22452838 2012 Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

PMID 21954287 2011 Phenotypic spectrum associated with CASK loss-of-function mutations.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 19165920 2008 Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

PMID 21498811 2011 MAGUKs, synaptic development, and synaptic plasticity.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

PMID 22709267 2012 CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.

PMID 25886057 2015 Phenotypic and molecular insights into CASK-related disorders in males.

PMID 24768552 2014 Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

PMID 24781210 2014 The genetic landscape of infantile spasms.

PMID 20029458 2010 CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

rs1553766262 in CASR gene and Dysmorphic features

PMID 26855056 2016 Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia.

PMID 28122587 2017 Diseases associated with calcium-sensing receptor.

PMID 20846291 2010 A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.

rs397517076 in CBL gene and Dysmorphic features

PMID 28589114 2017 Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.

PMID 20694012 2010 Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

PMID 25952305 2015 Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

PMID 20619386 2010 Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

PMID 22266821 2012 Structural basis for autoinhibition and phosphorylation-dependent activation of c-Cbl.

PMID 26152360 2015 Deleterious c-Cbl Exon Skipping Contributes to Human Glioma.

PMID 20543203 2010 Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

rs1555721837 in CCDC151 gene and Dysmorphic features

PMID 25192045 2014 CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

PMID 14656747 2004 Primary ciliary dyskinesia: diagnostic and phenotypic features.

PMID 24577564 2014 Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

PMID 8071978 1994 Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).

PMID 12627427 2003 Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome.

PMID 9298603 1997 Treatment of otitis media with effusion in children with primary ciliary dyskinesia.

PMID 25224326 2014 Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.

rs587777618 in CCND2 gene and Dysmorphic features

PMID 28941273 2018 Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

PMID 24705253 2014 De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

PMID 22500628 2012 Somatic activation of AKT3 causes hemispheric developmental brain malformations.

PMID 23624932 2013 Regulation of cerebral cortex size and folding by expansion of basal progenitors.

PMID 17486076 2007 Glycogen synthase kinase-3beta and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin/proteasome-dependent degradation in hematopoietic cells.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 19641124 2009 Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex.

PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

PMID 16766701 2006 The role of intermediate progenitor cells in the evolutionary expansion of the cerebral cortex.

PMID 22729223 2012 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

PMID 26520804 2015 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

PMID 15627943 2004 Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

PMID 22729222 2012 Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

rs797044870 in CDC42 gene and Dysmorphic features

PMID 12195014 2002 The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation.

PMID 11864373 2002 The evolutionary history of effectors downstream of Cdc42 and Rac.

PMID 10898977 2000 Cdc42 is required for PIP(2)-induced actin polymerization and early development but not for cell viability.

PMID 12478284 2002 Rho GTPases in cell biology.

PMID 14561717 2003 Structural basis of the Rho GTPase signaling.

PMID 19700661 2009 Kainic acid-induced F-344 rat model of mesial temporal lobe epilepsy: gene expression and canonical pathways.

PMID 11149925 2001 Differential localization of Rho GTPases in live cells: regulation by hypervariable regions and RhoGDI binding.

PMID 8103286 1993 Clinical and molecular analyses of deletion 3p25-pter syndrome.

PMID 11025683 2000 Function of Rho family proteins in actin dynamics during phagocytosis and engulfment.

PMID 24059268 2013 Dual lipidation of the brain-specific Cdc42 isoform regulates its functional properties.

PMID 17918734 2007 Monosomy 1p36 deletion syndrome.

PMID 26386261 2015 Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.

PMID 21423166 2011 Local, persistent activation of Rho GTPases during plasticity of single dendritic spines.

PMID 20633244 2010 Cdc42 and vesicle trafficking in polarized cells.

PMID 15884002 2005 Rho GTPases, dendritic structure, and mental retardation.

PMID 12915473 2003 Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

PMID 15269155 2004 Overexpression of RhoA, Rac1, and Cdc42 GTPases is associated with progression in testicular cancer.

PMID 21515363 2011 Cdc42 in oncogenic transformation, invasion, and tumorigenesis.

PMID 7473653 1995 Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.

PMID 17970806 2007 Involvement of E-cadherin, beta-catenin, Cdc42 and CXCR4 in the progression and prognosis of cutaneous melanoma.

PMID 12687501 2003 Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

PMID 19092927 2008 Neural palmitoyl-proteomics reveals dynamic synaptic palmitoylation.

PMID 22266952 2012 Expression analysis of Cdc42 in lung cancer and modulation of its expression by curcumin in lung cancer cell lines.

PMID 18511961 2008 Molecular basis of dendritic arborization.

PMID 23382385 2013 Characterization of a Cdc42 protein inhibitor and its use as a molecular probe.

PMID 16949823 2006 Rho GTPases and actin dynamics in membrane protrusions and vesicle trafficking.

PMID 20878268 2010 RHO GTPase signaling for axon extension: is prenylation important?

PMID 17540168 2007 GEFs and GAPs: critical elements in the control of small G proteins.

PMID 18245432 2008 Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

PMID 17050694 2006 Cdc42 deficiency causes Sonic hedgehog-independent holoprosencephaly.

rs878853160 in CDK13 gene and Dysmorphic features

PMID 25560765 2015 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

PMID 29222009 2018 Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.

PMID 27479907 2016 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

PMID 29021403 2018 Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 26539891 2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

PMID 24999027 2014 Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression.

rs1555951981 in CDKL5 gene and Dysmorphic features

PMID 22670135 2012 CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

PMID 19793311 2009 Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

PMID 21775177 2011 Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.

PMID 26708753 2016 Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

PMID 22678952 2012 Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.

PMID 22779007 2012 What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.

PMID 24916645 2015 GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.

PMID 23583054 2013 CDKL5 and ARX mutations in males with early-onset epilepsy.

PMID 27528505 2016 Functional abilities in children and adults with the CDKL5 disorder.

PMID 24564546 2014 Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.

PMID 18266744 2008 The three stages of epilepsy in patients with CDKL5 mutations.

PMID 22872100 2013 The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

PMID 25266480 2014 Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

PMID 23151060 2013 Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.

PMID 19241098 2009 Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.

PMID 15492925 2004 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

PMID 19471977 2009 Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.

rs1266747910 in CEP63 gene and Dysmorphic features

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 26400686 2015 Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.

PMID 21406398 2011 Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance.

PMID 21983783 2011 A primary microcephaly protein complex forms a ring around parental centrioles.

PMID 23936128 2013 Cep63 and cep152 cooperate to ensure centriole duplication.

PMID 26158450 2015 CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination.

PMID 22775483 2013 Genetic heterogeneity in Pakistani microcephaly families.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 15793586 2005 A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

PMID 20598275 2010 Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

PMID 19829375 2009 Asymmetric centrosome inheritance maintains neural progenitors in the neocortex.

PMID 16829198 2006 What primary microcephaly can tell us about brain growth.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

rs1555379911 in CHAMP1 gene and Dysmorphic features

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 27148580 2016 De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

PMID 21063390 2011 CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment.

PMID 26340335 2015 De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

PMID 26751395 2016 De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

rs1555440555 in CHD2 gene and Dysmorphic features

PMID 24207121 2013 De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

PMID 22865819 2012 Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 28960266 2017 Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 25284784 2014 De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.

PMID 17350655 2007 The Chd family of chromatin remodelers.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 25672921 2015 CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.

PMID 26754451 2016 Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.

PMID 25418537 2014 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

rs1377989582 in CHD4 gene and Dysmorphic features

PMID 27479907 2016 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

PMID 25849321 2016 Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.

PMID 27616479 2016 De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

PMID 22302795 2012 The nucleosome remodeling and deacetylase chromatin remodeling (NuRD) complex is required for peripheral nerve myelination.

PMID 27418512 2016 Chromatin remodeling inactivates activity genes and regulates neural coding.

PMID 20693977 2010 Regulation of DNA-damage responses and cell-cycle progression by the chromatin remodelling factor CHD4.

PMID 26116663 2015 Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification.

PMID 24348274 2013 The NuRD chromatin-remodeling enzyme CHD4 promotes embryonic vascular integrity by transcriptionally regulating extracellular matrix proteolysis.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

rs1064793083 in CHD7 gene and Dysmorphic features

PMID 20186815 2010 Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

PMID 14626219 2003 Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies.

PMID 23883829 2013 CHD7 gene polymorphisms and familial idiopathic scoliosis.

PMID 17661815 2007 Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 16155193 2006 CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

PMID 26590800 2016 Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

PMID 21532573 2011 Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.

PMID 16400610 2006 Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

PMID 15666308 2005 Updated diagnostic criteria for CHARGE syndrome: a proposal.

PMID 10590394 1999 CHARGE Association in newborns: a registry-based study.

PMID 22461308 2012 Mutation update on the CHD7 gene involved in CHARGE syndrome.

PMID 17299439 2007 CHARGE syndrome: an update.

PMID 25472840 2014 Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

PMID 22539353 2012 A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

PMID 21378379 2011 CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

PMID 15300250 2004 Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 20130577 2010 CHD7 cooperates with PBAF to control multipotent neural crest formation.

PMID 18834967 2008 Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

rs1555314736 in CHD8 gene and Dysmorphic features

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

PMID 21447119 2011 Genetic and expressional alterations of CHD genes in gastric and colorectal cancers.

PMID 23835524 2013 CHD8 is an independent prognostic indicator that regulates Wnt/β-catenin signaling and the cell cycle in gastric cancer.

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 22083958 2012 Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway.

PMID 18378692 2008 CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.

rs764358419 in CHMP1A gene and Dysmorphic features

PMID 11559747 2001 CHMP1 is a novel nuclear matrix protein affecting chromatin structure and cell-cycle progression.

PMID 11559748 2001 CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins.

PMID 23023333 2012 CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.

rs746480833 in CHRNB2;LOC107985206 gene and Dysmorphic features

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

rs797044677 in CHRNG gene and Dysmorphic features

PMID 22167768 2012 CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

PMID 25957469 2015 Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

PMID 16826531 2006 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

PMID 24038971 2013 Neuromotor synapses in Escobar syndrome.

PMID 27245440 2016 Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

rs1366421988 in CLN8 gene and Dysmorphic features

PMID 27844444 2017 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

PMID 26657971 2015 Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.

rs1555806893 in CNOT3;LOC102724273 gene and Dysmorphic features

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 26821858 2016 The Ccr4-Not complex is a key regulator of eukaryotic gene expression.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 28263302 2017 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

PMID 11696541 2002 Interaction between Not1p, a component of the Ccr4-not complex, a global regulator of transcription, and Dhh1p, a putative RNA helicase.

PMID 10637334 2000 Isolation and characterization of human orthologs of yeast CCR4-NOT complex subunits.

PMID 23280189 2013 The Not3/5 subunit of the Ccr4-Not complex: a central regulator of gene expression that integrates signals between the cytoplasm and the nucleus in eukaryotic cells.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 26637982 2015 TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

PMID 21897366 2011 Obesity resistance and increased hepatic expression of catabolism-related mRNAs in Cnot3+/- mice.

PMID 20371351 2010 A global in vivo Drosophila RNAi screen identifies NOT3 as a conserved regulator of heart function.

PMID 17273961 2007 Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.

PMID 12215531 2002 The Ccr4-not complex and yTAF1 (yTaf(II)130p/yTaf(II)145p) show physical and functional interactions.

rs1553234339 in COL11A1 gene and Dysmorphic features

PMID 21668896 2012 Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.

PMID 21035103 2010 Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

PMID 25240749 2014 Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

PMID 9529347 1998 Marshall syndrome associated with a splicing defect at the COL11A1 locus.

PMID 19449424 2009 Mosaicism in Marshall syndrome.

PMID 17236192 2007 A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.

rs797044915 in COL11A2 gene and Dysmorphic features

PMID 10581026 1999 Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).

PMID 22246659 2012 Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

PMID 10733181 2000 The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.

PMID 9188673 1997 Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.

PMID 7859284 1995 Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.

PMID 10353778 1999 Clinical and Molecular genetics of Stickler syndrome.

PMID 8838804 1996 The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene.

PMID 10486316 1999 Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

PMID 9506662 1998 Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.

PMID 21671392 2011 A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.

PMID 2463256 1989 Cartilage contains mixed fibrils of collagen types II, IX, and XI.

PMID 813535 1975 The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.

PMID 2760050 1989 The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.

PMID 16033917 2005 Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.

PMID 9805126 1998 Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

PMID 16637051 2006 Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.

PMID 10677296 2000 Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

rs1555575085 in COL1A1 gene and Dysmorphic features

PMID 24964776 2014 Osteogenesis imperfecta: diagnosis and treatment.

PMID 23735642 2013 Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age.

PMID 24715559 2014 Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

PMID 28668235 2017 Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

PMID 24891183 2015 COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

PMID 23522764 2013 Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years?

PMID 9295084 1997 Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

PMID 6876111 1983 Heterogeneity of osteogenesis imperfecta type I.

PMID 24389367 2014 Caffey disease: new perspectives on old questions.

PMID 23047998 2012 Caffey disease in neonatal period: the importance of the family!

PMID 15864348 2005 A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

PMID 22570641 2011 Osteogenesis Imperfecta: A Review with Clinical Examples.

PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

PMID 10073586 1999 Ehlers-Danlos syndrome type VII: clinical features and molecular defects.

PMID 22174522 2011 A rare variant of Caffey's disease - X-rays, bone scan and FDG PET findings.

PMID 13431894 1957 Infantile cortical hyperostosis; a review of the clinical and radiographic features.

PMID 10739762 2000 Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

PMID 21801164 2012 Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

PMID 20087402 2010 Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.

PMID 21344539 2011 COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

rs72658127 in COL1A2 gene and Dysmorphic features

PMID 15077201 2004 Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

PMID 21344539 2011 COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

PMID 9557891 1998 Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

PMID 8071956 1994 The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

PMID 21801164 2012 Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

PMID 9295084 1997 Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

PMID 2824475 1987 Organization of the human pro-alpha 2(I) collagen gene.

PMID 458828 1979 Genetic heterogeneity in osteogenesis imperfecta.

PMID 24140640 2013 Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 28625337 2018 Osteogenesis imperfecta - A clinical update.

PMID 24668929 2014 Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

PMID 28916840 2018 A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.

PMID 2010058 1991 Mutations in collagen genes: causes of rare and some common diseases in humans.

PMID 21912751 2011 Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.

rs1554829390 in COL27A1;LOC105376224 gene and Dysmorphic features

PMID 17331945 2007 Collagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagens.

PMID 7990924 1994 Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

PMID 12766169 2003 A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family.

PMID 15922909 2005 The new collagen gene COL27A1 contains SOX9-responsive enhancer elements.

PMID 17693149 2007 Type XXVII collagen at the transition of cartilage to bone during skeletogenesis.

PMID 28276056 2017 Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.

PMID 19204719 2009 Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.

PMID 19414009 2009 The transcription factor Lc-Maf participates in Col27a1 regulation during chondrocyte maturation.

PMID 20041163 2009 Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth.

PMID 22206015 2011 Collagen XXVII organises the pericellular matrix in the growth plate.

PMID 24986830 2015 Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.

PMID 8001137 1994 Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.

PMID 12714037 2003 Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1.

rs1555164672 in COL2A1 gene and Dysmorphic features

PMID 26345137 2015 Association between Kniest dysplasia and chondrosarcoma in a child.

PMID 26626311 2016 The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

PMID 9724608 1998 Gly-X-Y tripeptide frequencies in collagen: a context for host-guest triple-helical peptides.

PMID 22791362 2012 Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

PMID 26358419 2016 Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.

PMID 20179744 2010 Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

PMID 12848929 2003 Basic helix-loop-helix factors in cortical development.

PMID 1971141 1990 Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).

PMID 25604898 2015 A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

PMID 20513134 2010 Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

PMID 12925722 2003 A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.

PMID 10353778 1999 Clinical and Molecular genetics of Stickler syndrome.

PMID 26250472 2015 Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).

rs1064795935 in COL4A1 gene and Dysmorphic features

PMID 15905400 2005 Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

PMID 19194877 2009 COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

PMID 16374828 2006 Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

PMID 12525718 2003 Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.

PMID 18160688 2007 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

PMID 22574627 2012 Childhood presentation of COL4A1 mutations.

PMID 15882279 2005 Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.

PMID 17696175 2007 COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

PMID 21625620 2011 COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

PMID 16107487 2006 Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

PMID 17938367 2007 Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

PMID 23065703 2013 Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

PMID 19949034 2009 Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

PMID 23394911 2013 Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

PMID 16598045 2006 Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

PMID 19840616 2009 COL4A1 mutation in preterm intraventricular hemorrhage.

PMID 6428250 1984 Familial porencephalic white matter disease in two generations.

PMID 26220970 2015 High-throughput genetic characterization of a cohort of Brugada syndrome patients.

rs1555873084 in COL6A2 gene and Dysmorphic features

PMID 25533456 2015 Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.

PMID 23564457 2013 COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.

PMID 25204870 2015 Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

PMID 19949035 2009 Autosomal recessive Bethlem myopathy.

PMID 11865138 2002 Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

PMID 18852439 2008 Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

PMID 24038877 2013 Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.

PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

PMID 20976770 2010 Early onset collagen VI myopathies: Genetic and clinical correlations.

PMID 22426012 2012 Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.

rs121912832 in COL7A1 gene and Dysmorphic features

PMID 26064063 2015 Dystrophic epidermolysis bullosa: a review.

PMID 3771648 1986 Type VII collagen is a major structural component of anchoring fibrils.

PMID 20507384 2010 Overview of epidermolysis bullosa.

PMID 19026465 2009 Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006.

rs1045118320 in COQ4 gene and Dysmorphic features

PMID 24270420 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

PMID 21540551 2011 COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

PMID 17485248 2007 CoQ10 deficiency diseases in adults.

PMID 17332895 2007 Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

PMID 18579827 2008 Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency.

PMID 28540186 2017 Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ₁₀ deficiency.

PMID 21844807 2011 Coenzyme Q deficiency in muscle.

PMID 22368301 2012 Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

PMID 16116126 2005 Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

PMID 26185144 2015 Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

PMID 25126048 2014 Genetics of coenzyme q10 deficiency.

PMID 25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

PMID 18474229 2008 Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.

rs1554117456 in CPLANE1 gene and Dysmorphic features

PMID 24178751 2014 C5orf42 is the major gene responsible for OFD syndrome type VI.

PMID 25846457 2015 Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 25407461 2015 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

PMID 21679365 2011 The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

PMID 22236771 2012 Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

rs1555471813 in CREBBP gene and Dysmorphic features

PMID 12114483 2002 Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

PMID 13983033 1963 Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

PMID 25108505 2015 Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

PMID 18792986 2008 Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

PMID 12070251 2002 Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.

PMID 10699051 2000 Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

PMID 16783566 2006 Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

PMID 25388907 2015 Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

PMID 26603346 2016 Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.

PMID 26956253 2016 Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

PMID 25599811 2015 Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

PMID 26788536 2016 CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 27165009 2016 Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.

PMID 27311832 2016 CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

PMID 27342041 2016 Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.

PMID 16021471 2005 DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

PMID 15706485 2005 Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

rs917027829 in CSF1R gene and Dysmorphic features

PMID 23816250 2013 A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

PMID 23649896 2013 Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

PMID 24145216 2013 CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

PMID 22098561 2012 Update of the original HDLS kindred: divergent clinical courses.

PMID 19487654 2009 Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

PMID 6595937 1984 Hereditary diffuse leucoencephalopathy with spheroids.

PMID 8981357 1997 Biology and action of colony--stimulating factor-1.

PMID 23411710 2013 Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

PMID 24336230 2014 Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

PMID 22197934 2011 Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

PMID 18794495 2008 Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids.

PMID 23408870 2013 CSF1R mutations link POLD and HDLS as a single disease entity.

PMID 22843259 2012 MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

rs869312845 in CSNK2A1 gene and Dysmorphic features

PMID 27048600 2016 De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.

PMID 21761202 2011 Predominance of CK2α over CK2α' in the mammalian brain.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 24395637 2014 Presynaptic CK2 promotes synapse organization and stability by targeting Ankyrin2.

PMID 29240241 2018 Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

PMID 17954558 2008 The alpha catalytic subunit of protein kinase CK2 is required for mouse embryonic development.

rs147484110 in CSTB gene and Dysmorphic features

PMID 26843564 2016 CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

PMID 22154554 2012 Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.

PMID 23205931 2012 Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

PMID 17158032 2007 Long-term evolution of EEG in Unverricht-Lundborg disease.

PMID 18325013 2008 Clinical picture of EPM1-Unverricht-Lundborg disease.

PMID 28378817 2017 Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

PMID 12058102 2002 Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.

PMID 21757863 2011 Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.

rs1555534067 in CTCF gene and Dysmorphic features

PMID 23746550 2013 De novo mutations in the genome organizer CTCF cause intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 28619046 2017 Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

PMID 22354838 2012 CTCF: insights into insulator function during development.

PMID 18654629 2008 The insulator binding protein CTCF positions 20 nucleosomes around its binding sites across the human genome.

PMID 19563753 2009 CTCF: master weaver of the genome.

rs1553630472 in CTNNB1 gene and Dysmorphic features

PMID 18334222 2008 Crystal structure of a full-length beta-catenin.

PMID 15866164 2005 Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.

PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

PMID 21903672 2011 Maintaining embryonic stem cell pluripotency with Wnt signaling.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 15866163 2005 Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.

PMID 22682243 2012 Wnt/β-catenin signaling and disease.

PMID 22110128 2012 Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358.

PMID 24614104 2014 Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

PMID 23499309 2013 Mutations in WNT1 cause different forms of bone fragility.

PMID 1999432 1991 Purification of a 92-kDa cytoplasmic protein tightly associated with the cell-cell adhesion molecule E-cadherin (uvomorulin). Characterization and extractability of the protein complex from the cell cytostructure.

PMID 24431282 2014 Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 15713948 2005 Wnt/beta-catenin pathway.

PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

PMID 8227220 1993 The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction.

PMID 8582267 1995 Lack of beta-catenin affects mouse development at gastrulation.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 28575650 2017 Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

PMID 9060476 1997 Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway.

rs1553521389 in CUL3 gene and Dysmorphic features

PMID 22266938 2012 Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

PMID 20880695 2010 Structural assembly of cullin-RING ubiquitin ligase complexes.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 21554755 2011 The cullin protein family.

PMID 18927510 2008 The cullin7 E3 ubiquitin ligase: a novel player in growth control.

PMID 16595883 2006 The ubiquitin-proteasome system.

PMID 18687424 2009 Gene expression alterations in cryptorchid males using spermatozoal microarray analysis.

PMID 20065088 2010 Drosophila Kelch functions with Cullin-3 to organize the ring canal actin cytoskeleton.

PMID 15136734 2004 Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice.

PMID 15843622 2005 Requirement of Cul3 for axonal arborization and dendritic elaboration in Drosophila mushroom body neurons.

PMID 17559828 2007 Suppression of Hedgehog signaling by Cul3 ligases in proliferation control of retinal precursors.

PMID 10500095 1999 Cullin-3 targets cyclin E for ubiquitination and controls S phase in mammalian cells.

PMID 15511641 2004 Cullin-3 regulates pattern formation, external sensory organ development and cell survival during Drosophila development.

PMID 16162871 2006 Cullin3 is a KLHL10-interacting protein preferentially expressed during late spermiogenesis.

PMID 22914163 2012 Rate of de novo mutations and the importance of father's age to disease risk.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 15071497 2004 Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family.

PMID 25969726 2015 Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

PMID 24959344 2014 Kelch proteins: emerging roles in skeletal muscle development and diseases.

PMID 3002982 1986 Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate.

PMID 23665959 2013 De novo mutations in histone-modifying genes in congenital heart disease.

PMID 24266877 2014 Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 23676014 2013 Update on the Kelch-like (KLHL) gene family.

rs1260356990 in CUL4B gene and Dysmorphic features

PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

PMID 10978355 2000 A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

PMID 20002452 2010 A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.

PMID 21816345 2011 X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.

PMID 24898194 2014 Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

PMID 17236139 2007 Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

PMID 19818632 2009 CRL4s: the CUL4-RING E3 ubiquitin ligases.

PMID 17273978 2007 Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.

PMID 25385192 2015 Variants in CUL4B are associated with cerebral malformations.

PMID 28817236 2017 A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.

rs1057519430 in DDX3X gene and Dysmorphic features

PMID 17979704 2007 The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays.

PMID 28371085 2017 DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

PMID 25050112 2014 DDX3X regulates cell survival and cell cycle during mouse early embryonic development.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 22722829 2012 Novel mutations target distinct subgroups of medulloblastoma.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 26235985 2015 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

PMID 15772666 2005 X-inactivation profile reveals extensive variability in X-linked gene expression in females.

PMID 18463129 2008 Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

PMID 2563148 1989 Birth of the D-E-A-D box.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 23413191 2013 RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling.

PMID 9381176 1997 Functional coherence of the human Y chromosome.

PMID 25724843 2015 Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

PMID 16518819 2006 Divergent roles of the DEAD-box protein BS-PL10, the urochordate homologue of human DDX3 and DDX3Y proteins, in colony astogeny and ontogeny.

PMID 15572142 2005 Belle is a Drosophila DEAD-box protein required for viability and in the germ line.

rs1555950665 in DDX3X;LOC105373184;LOC107985678 gene and Dysmorphic features

PMID 25050112 2014 DDX3X regulates cell survival and cell cycle during mouse early embryonic development.

PMID 2563148 1989 Birth of the D-E-A-D box.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 25724843 2015 Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23413191 2013 RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling.

PMID 18463129 2008 Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

PMID 16518819 2006 Divergent roles of the DEAD-box protein BS-PL10, the urochordate homologue of human DDX3 and DDX3Y proteins, in colony astogeny and ontogeny.

PMID 22722829 2012 Novel mutations target distinct subgroups of medulloblastoma.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 15772666 2005 X-inactivation profile reveals extensive variability in X-linked gene expression in females.

PMID 26235985 2015 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

PMID 17979704 2007 The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays.

PMID 9381176 1997 Functional coherence of the human Y chromosome.

PMID 15572142 2005 Belle is a Drosophila DEAD-box protein required for viability and in the germ line.

PMID 28371085 2017 DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

rs1554944527 in DEAF1 gene and Dysmorphic features

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 24726472 2014 Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

PMID 22442688 2012 Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex.

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 26834045 2016 Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.

PMID 24668509 2014 Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

PMID 26048982 2015 Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

PMID 23372760 2013 Structural and functional analysis of the DEAF-1 and BS69 MYND domains.

rs1057517825 in DERL3;SMARCB1 gene and Dysmorphic features

PMID 25168959 2014 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

PMID 23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

rs1331331095 in DHCR7 gene and Dysmorphic features

PMID 10807690 2000 The Smith-Lemli-Opitz syndrome.

PMID 23293579 2012 Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

PMID 9024557 1997 Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.

PMID 21777499 2011 Smith-Lemli-Opitz syndrome.

PMID 10677299 2000 Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

PMID 22438180 2012 Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

PMID 16906538 2006 DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?

PMID 23918729 2013 Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

PMID 18285838 2008 Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.

PMID 16761297 2006 The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

PMID 8259166 1994 Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

PMID 15464432 2005 Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

PMID 23042628 2012 Mutational spectrum of Smith-Lemli-Opitz syndrome.

PMID 15286151 2004 Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

PMID 11562938 2001 Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

PMID 11241839 2001 Mutations in the human DHCR7 gene.

rs1241142887 in DLG3 gene and Dysmorphic features

PMID 19795139 2010 A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.

PMID 28777483 2017 Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

PMID 25649377 2015 Next-generation sequencing in X-linked intellectual disability.

PMID 15185169 2004 Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.

PMID 24721225 2014 X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

PMID 22659343 2012 Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

rs116128702 in DNAH5 gene and Dysmorphic features

PMID 19357118 2009 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

PMID 12615011 2003 Lateralization defects and ciliary dyskinesia: lessons from algae.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

rs1554773487 in DNM1 gene and Dysmorphic features

PMID 7877694 1995 Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding.

PMID 28667181 2017 DNM1 encephalopathy: A new disease of vesicle fission.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 26611353 2016 De novo DNM1 mutations in two cases of epileptic encephalopathy.

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

PMID 9294229 1997 A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans.

PMID 1832879 1991 Predominant and developmentally regulated expression of dynamin in neurons.

PMID 19502294 2009 Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

PMID 8360266 1993 A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis.

PMID 23781021 2013 Building a fission machine--structural insights into dynamin assembly and activation.

PMID 1828536 1991 Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis.

PMID 21927001 2011 The crystal structure of dynamin.

PMID 7962076 1994 Induction of mutant dynamin specifically blocks endocytic coated vesicle formation.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 21926968 2011 Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I.

PMID 7877693 1995 Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals.

PMID 8290576 1994 Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues.

PMID 6304244 1983 Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila.

PMID 23092955 2013 Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

PMID 1674590 1991 Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic.

PMID 19633650 2009 Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin.

PMID 20428113 2010 G domain dimerization controls dynamin's assembly-stimulated GTPase activity.

PMID 22099461 2011 Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission.

PMID 20700442 2010 A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice.

PMID 22233676 2012 Dynamin, a membrane-remodelling GTPase.

PMID 21102612 2010 Mitochondrial fusion and fission in cell life and death.

PMID 21441247 2011 SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

PMID 19665976 2009 A class of dynamin-like GTPases involved in the generation of the tubular ER network.

PMID 12509422 2003 Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.

PMID 15731758 2005 Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

PMID 17463283 2007 A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis.

PMID 15509649 2004 OPA1 requires mitofusin 1 to promote mitochondrial fusion.

PMID 11879655 2002 Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice.

PMID 18250322 2008 Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons.

PMID 10074457 1999 Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain.

PMID 11553700 2001 Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages.

PMID 17460227 2007 A lethal defect of mitochondrial and peroxisomal fission.

PMID 14985377 2004 Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

rs1554767317 in DNM1;CIZ1 gene and Dysmorphic features

PMID 17463283 2007 A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis.

PMID 1674590 1991 Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic.

PMID 7962076 1994 Induction of mutant dynamin specifically blocks endocytic coated vesicle formation.

PMID 17460227 2007 A lethal defect of mitochondrial and peroxisomal fission.

PMID 9294229 1997 A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans.

PMID 11553700 2001 Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages.

PMID 12509422 2003 Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.

PMID 8290576 1994 Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues.

PMID 15731758 2005 Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

PMID 7877694 1995 Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding.

PMID 14985377 2004 Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

PMID 20700442 2010 A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice.

PMID 8360266 1993 A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis.

PMID 21102612 2010 Mitochondrial fusion and fission in cell life and death.

PMID 11879655 2002 Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice.

PMID 26611353 2016 De novo DNM1 mutations in two cases of epileptic encephalopathy.

PMID 20428113 2010 G domain dimerization controls dynamin's assembly-stimulated GTPase activity.

PMID 19665976 2009 A class of dynamin-like GTPases involved in the generation of the tubular ER network.

PMID 15509649 2004 OPA1 requires mitofusin 1 to promote mitochondrial fusion.

PMID 1832879 1991 Predominant and developmentally regulated expression of dynamin in neurons.

PMID 19633650 2009 Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin.

PMID 1828536 1991 Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis.

PMID 18250322 2008 Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 19502294 2009 Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

PMID 7877693 1995 Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals.

PMID 10074457 1999 Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain.

PMID 6304244 1983 Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila.

PMID 22233676 2012 Dynamin, a membrane-remodelling GTPase.

PMID 22099461 2011 Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission.

PMID 21927001 2011 The crystal structure of dynamin.

PMID 23092955 2013 Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

PMID 21441247 2011 SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

PMID 21926968 2011 Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I.

PMID 23781021 2013 Building a fission machine--structural insights into dynamin assembly and activation.

PMID 28667181 2017 DNM1 encephalopathy: A new disease of vesicle fission.

rs147001633 in DNMT3A gene and Dysmorphic features

PMID 10555141 1999 DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

PMID 10433969 1999 Cloning, expression and chromosome locations of the human DNMT3 gene family.

PMID 10647011 1999 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

PMID 28667884 2017 Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy.

PMID 28941052 2017 The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 27991732 2017 Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

PMID 12359337 2002 The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents.

PMID 12138111 2002 A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation.

PMID 10325416 1999 The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors.

PMID 28386848 2018 Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.

PMID 11399089 2001 Enzymatic properties of recombinant Dnmt3a DNA methyltransferase from mouse: the enzyme modifies DNA in a non-processive manner and also methylates non-CpG [correction of non-CpA] sites.

PMID 2717398 1989 Predictive motifs derived from cytosine methyltransferases.

PMID 15739230 2005 DNA methyltransferase expression in the mouse germ line during periods of de novo methylation.

PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

PMID 27701732 2017 Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.

PMID 15063176 2004 Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells.

PMID 15672446 2005 Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 26866722 2016 Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.

PMID 21844811 2011 An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

PMID 21067377 2010 DNMT3A mutations in acute myeloid leukemia.

PMID 20228804 2010 Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons.

PMID 20651149 2010 Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes.

PMID 1423634 1992 A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.

PMID 12575993 2003 The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 17878930 2007 DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons.

PMID 16501171 2006 Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.

PMID 20729844 2010 Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens.

PMID 17445268 2007 Coordinate regulation of DNA methyltransferase expression during oogenesis.

PMID 21507354 2011 The DNMT3 family of mammalian de novo DNA methyltransferases.

PMID 16725135 2006 Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse.

PMID 16357870 2006 The Polycomb group protein EZH2 directly controls DNA methylation.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

rs767858333 in DOCK1 gene and Dysmorphic features

PMID 18332221 2008 Myoblasts and macrophages share molecular components that contribute to cell-cell fusion.

PMID 17765544 2007 GEF what? Dock180 and related proteins help Rac to polarize cells in new ways.

PMID 18820033 2008 The atypical Rac activator Dock180 (Dock1) regulates myoblast fusion in vivo.

PMID 25022758 2014 Dock-family exchange factors in cell migration and disease.

PMID 18591431 2008 Nicotinic acetylcholine receptor is internalized via a Rac-dependent, dynamin-independent endocytic pathway.

PMID 20829512 2010 DOCK180 is a Rac activator that regulates cardiovascular development by acting downstream of CXCR4.

PMID 27662902 2017 RHOG-DOCK1-RAC1 Signaling Axis Is Perturbed in DHEA-Induced Polycystic Ovary in Rat Model.

PMID 3372592 1988 A role for acetylcholine receptors in the fusion of chick myoblasts.

PMID 26527617 2016 Sorbs1 and -2 Interact with CrkL and Are Required for Acetylcholine Receptor Cluster Formation.

PMID 17670792 2007 A role for the Myoblast city homologues Dock1 and Dock5 and the adaptor proteins Crk and Crk-like in zebrafish myoblast fusion.

rs1553749681 in DOCK3 gene and Dysmorphic features

PMID 15234347 2004 Regulation of dendritic spine motility and stability by Rac1 and Rho kinase: evidence for two forms of spine motility.

PMID 25599672 2015 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 12566533 2003 A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.

PMID 28195318 2017 Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

PMID 10884317 2000 Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons.

PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 10854253 2000 Isolation and characterization of novel presenilin binding protein.

PMID 24870542 2014 A draft map of the human proteome.

PMID 12432077 2002 Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.

PMID 25016980 2014 Dock GEFs and their therapeutic potential: neuroprotection and axon regeneration.

PMID 20368433 2010 Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex.

PMID 29130632 2018 DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 17055478 2006 Neurotrophin receptor homolog (NRH1) proteins regulate mesoderm formation and apoptosis during early Xenopus development.

PMID 14569117 2003 Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.

PMID 19129390 2009 Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration.

PMID 17911219 2008 BDNF and memory formation and storage.

PMID 14682358 2003 Signalling mechanisms mediating neuronal responses to guidance cues.

PMID 17046689 2006 Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation.

PMID 15829629 2005 TrkB has a cell-autonomous role in the establishment of hippocampal Schaffer collateral synapses.

PMID 15494731 2004 A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

rs1280482569 in DOCK6;LOC105372273 gene and Dysmorphic features

PMID 23522784 2013 Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 28160419 2017 Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.

PMID 25824905 2015 DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

PMID 28884918 2017 Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.

rs1479675678 in DOCK7 gene and Dysmorphic features

PMID 24814191 2014 Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

PMID 16982419 2006 The Rac activator DOCK7 regulates neuronal polarity through local phosphorylation of stathmin/Op18.

rs1369501286 in DSCAM gene and Dysmorphic features

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 26401017 2015 Low load for disruptive mutations in autism genes and their biased transmission.

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 26749308 2016 Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.

rs530719719 in DUOX2 gene and Dysmorphic features

PMID 28666341 2017 DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.

PMID 24735383 2014 Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes.

PMID 19789206 2009 Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland.

PMID 21900383 2011 Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients.

PMID 27108200 2016 Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.

PMID 20187165 2010 Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism.

PMID 18765513 2008 Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.

PMID 23457309 2013 Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene.

PMID 21565790 2011 Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism.

PMID 16134168 2005 Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.

PMID 17121535 2006 Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.

PMID 17374849 2007 Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor.

PMID 24423310 2014 The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.

PMID 12110737 2002 Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

PMID 16322276 2006 Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect.

rs1555408829 in DYNC1H1 gene and Dysmorphic features

PMID 28193117 2017 Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.

PMID 22368300 2012 Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

PMID 24307404 2014 Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 22459677 2012 Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.

PMID 19074350 2008 Structure and functional role of dynein's microtubule-binding domain.

PMID 15826937 2005 The affinity of the dynein microtubule-binding domain is modulated by the conformation of its coiled-coil stalk.

PMID 28263302 2017 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

PMID 25609763 2015 Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

PMID 21820100 2011 Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

PMID 29243232 2018 A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

PMID 28325891 2017 Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.

PMID 9781046 1998 Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.

PMID 22847149 2012 A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 16519653 2006 Human disorders of cortical development: from past to present.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs1555985620 in DYRK1A gene and Dysmorphic features

PMID 21204217 2011 Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

PMID 12192061 2002 Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.

PMID 18364031 2008 The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development.

PMID 18405873 2008 Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

PMID 2143053 1990 Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

PMID 19383720 2009 Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A.

PMID 19685005 2009 Function and regulation of Dyrk1A: towards understanding Down syndrome.

PMID 26922654 2016 Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

PMID 21294719 2011 Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

PMID 23099646 2012 The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

PMID 12814361 2003 Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation.

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

PMID 23512985 2013 Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome.

PMID 25707398 2016 Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 17237124 2007 Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

PMID 22918246 2012 Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control.

PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

rs1057518204 in DYRK1A;LOC105372797 gene and Dysmorphic features

PMID 19383720 2009 Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A.

PMID 18364031 2008 The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development.

PMID 17237124 2007 Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

PMID 12814361 2003 Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation.

PMID 12192061 2002 Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.

PMID 18405873 2008 Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 25707398 2016 Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

PMID 23512985 2013 Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome.

PMID 23099646 2012 The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

PMID 22918246 2012 Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control.

PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

PMID 21294719 2011 Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

PMID 26922654 2016 Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

PMID 2143053 1990 Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

PMID 21204217 2011 Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

PMID 19685005 2009 Function and regulation of Dyrk1A: towards understanding Down syndrome.

rs1131692261 in EBF3 gene and Dysmorphic features

PMID 29162653 2017 De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

PMID 29062322 2017 Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.

PMID 20300201 2010 Mutations in ARX Result in Several Defects Involving GABAergic Neurons.

PMID 19627984 2009 Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity.

PMID 28017370 2017 De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

PMID 28017373 2017 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

PMID 28487885 2017 Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.

rs1341894581 in ECEL1 gene and Dysmorphic features

PMID 25708584 2015 ECEL1 mutation causes fetal arthrogryposis multiplex congenita.

PMID 23261301 2013 Mutations in ECEL1 cause distal arthrogryposis type 5D.

PMID 24782201 2014 Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.

PMID 23236030 2013 The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

PMID 25099528 2014 Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.

rs777218310 in ECHS1 gene and Dysmorphic features

PMID 25393721 2015 ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

PMID 25125611 2014 ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

PMID 26000322 2015 Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

PMID 28039521 2017 ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.

PMID 26099313 2015 Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 28202214 2017 Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

PMID 27221955 2016 Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

PMID 26920905 2016 ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.

PMID 28755360 2018 Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.

PMID 27905109 2017 A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

PMID 26081110 2015 Clinical and biochemical characterization of four patients with mutations in ECHS1.

PMID 27090768 2016 Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

PMID 28409271 2017 Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

rs1085307457 in EFTUD2 gene and Dysmorphic features

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 19921636 2009 Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

PMID 16760738 2006 A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.

PMID 22541558 2012 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

PMID 22305528 2012 Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

PMID 27670155 2017 Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.

PMID 23239648 2013 """Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype."

PMID 25735261 2015 Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.

PMID 24470203 2014 Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

PMID 25790162 2016 Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

PMID 24266672 2015 Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.

PMID 26507355 2016 Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

PMID 26118977 2015 EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.

PMID 23879989 2013 Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

PMID 23188108 2012 EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

rs137852720 in EHMT1 gene and Dysmorphic features

PMID 26808425 2016 A structured assessment of motor function and behavior in patients with Kleefstra syndrome.

PMID 29160022 2018 First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.

PMID 24779060 2014 If not Angelman, what is it? A review of Angelman-like syndromes.

PMID 19264732 2009 Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.

PMID 16826528 2006 Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

PMID 22670141 2012 Update on Kleefstra Syndrome.

PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

PMID 15805155 2005 Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

rs1554680190 in ELN gene and Dysmorphic features

PMID 15955094 2005 Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

PMID 10942104 2000 Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

PMID 11175284 2000 Elastin: mutational spectrum in supravalvular aortic stenosis.

PMID 27866049 2017 Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

PMID 19194475 2009 An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.

PMID 8132745 1994 Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.

PMID 21309044 2011 New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

PMID 23442826 2013 Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

PMID 18348261 2008 Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

rs1555911313 in EP300 gene and Dysmorphic features

PMID 26279656 2015 Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.

PMID 20014264 2010 Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

PMID 27648933 2016 Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

PMID 26486927 2016 From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.

PMID 27465822 2016 Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

PMID 25712426 2015 Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.

PMID 24476420 2015 Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

PMID 18792986 2008 Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

PMID 27964710 2016 First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.

PMID 20717166 2011 Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

PMID 17299436 2007 Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

PMID 19353645 2009 Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.

PMID 15706485 2005 Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

PMID 12114483 2002 Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

PMID 11331617 2001 Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.

PMID 17220215 2007 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

PMID 16428436 2006 Conditional knockout mice reveal distinct functions for the global transcriptional coactivators CBP and p300 in T-cell development.

PMID 13983033 1963 Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

PMID 24352918 2014 Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.

rs1242562412 in ERBB2;PGAP3 gene and Dysmorphic features

PMID 24439110 2014 Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

PMID 26077850 2015 High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

PMID 22265715 2012 GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics.

PMID 17314402 2007 Fatty acid remodeling of GPI-anchored proteins is required for their raft association.

PMID 28390064 2018 PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

rs1554794342 in ERCC6 gene and Dysmorphic features

PMID 26204423 2016 The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

PMID 26749132 2016 Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.

PMID 10767341 2000 Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.

PMID 1372469 1992 Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

PMID 23428416 2013 Cockayne syndrome: the expanding clinical and mutational spectrum.

PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 18628313 2008 Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

rs1555750721 in ERF gene and Dysmorphic features

PMID 20643727 2010 Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

PMID 23354439 2013 Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

PMID 27738187 2017 Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.

rs1553417206 in EXOC6B gene and Dysmorphic features

PMID 26669664 2016 A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.

rs1554260888 in EYA4 gene and Dysmorphic features

PMID 17567890 2007 Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.

PMID 27142990 2016 Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.

PMID 15735644 2005 Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.

rs1554499814 in EZH2 gene and Dysmorphic features

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 22190405 2011 Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

PMID 24214728 2013 Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

PMID 9781912 1998 Weaver syndrome: autosomal dominant inheritance of the disorder.

PMID 22177091 2012 Mutations in EZH2 cause Weaver syndrome.

rs113001196 in FBN1 gene and Dysmorphic features

PMID 25979247 2015 A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.

PMID 23897642 2013 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

PMID 3536967 1986 Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

PMID 24039054 2013 Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

PMID 20591885 2010 The revised Ghent nosology for the Marfan syndrome.

PMID 21594993 2011 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.

PMID 17253931 2006 Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

PMID 21594992 2011 Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.

PMID 21683322 2011 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.

PMID 16333834 2006 Molecular pathology of Shprintzen-Goldberg syndrome.

PMID 8563763 1996 Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

PMID 23278365 2013 Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

PMID 25736269 2015 FBN1 contributing to familial congenital diaphragmatic hernia.

PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

PMID 20979188 2010 Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

PMID 25101912 2015 Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

PMID 20375004 2010 Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

PMID 26026792 2015 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

PMID 8941093 1996 Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.

PMID 23133647 2012 Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

PMID 24635535 2015 The revised ghent nosology; reclassifying isolated ectopia lentis.

PMID 12651868 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.

PMID 24665001 2014 De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

PMID 15241795 2004 Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

PMID 16273536 2005 Genetic basis of thoracic aortic aneurysms and aortic dissections.

PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

PMID 14598350 2003 Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

rs1182326570 in FBXL4 gene and Dysmorphic features

PMID 10531035 1999 Identification of a family of human F-box proteins.

PMID 23993193 2013 Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.

PMID 23993194 2013 Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

PMID 25868664 2015 Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

PMID 28940506 2017 Molecular and clinical spectra of FBXL4 deficiency.

PMID 27743463 2017 FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

rs754320812 in FBXL6;SLC52A2 gene and Dysmorphic features

PMID 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

PMID 24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

PMID 27702554 2016 SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.

rs137853266 in FGD1 gene and Dysmorphic features

PMID 14560308 2004 Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

PMID 16353258 2006 Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.

PMID 11940089 2002 Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.

PMID 15809997 2005 Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).

PMID 16688726 2006 Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.

PMID 17152066 2007 Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.

PMID 20082460 2010 Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

PMID 22211847 2012 Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.

PMID 24307393 2014 Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

PMID 19110080 2009 First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.

PMID 8969170 1996 The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor.

rs121918490 in FGFR2 gene and Dysmorphic features

PMID 10067911 1999 Clinical variability in patients with Apert's syndrome.

PMID 11343323 2001 "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."

PMID 10633130 2000 Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 9585583 1998 Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

PMID 26362256 2015 FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 4078868 1985 Phenotypic variation in LADD syndrome.

PMID 7573032 1995 Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

PMID 28901406 2017 FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.

PMID 25245177 2014 Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.

PMID 10712195 2000 Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

PMID 19610084 2009 Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

PMID 8434615 1993 Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.

PMID 25343114 2013 The molecular and cellular basis of Apert syndrome.

PMID 10735635 2000 Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

PMID 15883293 2005 Limbal stem cell deficiency associated with LADD syndrome.

PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 18726952 2009 Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

PMID 1519658 1992 Beare-Stevenson cutis gyrata syndrome.

PMID 22387015 2012 Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

PMID 16740155 2006 Pfeiffer syndrome.

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 25209230 2014 Non surgical treatment of Crouzon syndrome.

PMID 15793702 2005 Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

PMID 16061565 2005 Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

rs28933068 in FGFR3 gene and Dysmorphic features

PMID 19449410 2009 Significant phenotypic variability of Muenke syndrome in identical twins.

PMID 17033969 2006 A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.

PMID 23740942 2013 New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.

PMID 17935505 2007 Crouzon with acanthosis nigricans. Further delineation of the syndrome.

PMID 15241680 2004 Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

PMID 18328977 2008 Achondroplasia.

PMID 18344207 2008 A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003.

PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 19098178 2009 Brain and bone abnormalities of thanatophoric dwarfism.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 18000976 2007 Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

PMID 23165795 2012 Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.

PMID 9677066 1998 Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

PMID 23378035 2013 Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.

PMID 9950359 1999 Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.

PMID 9580776 1998 Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

PMID 1956068 1991 The frequency of mental retardation in hypochondroplasia.

PMID 8845844 1996 Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

PMID 10053006 1999 A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

PMID 10602123 2000 Epidemiology and genetics of craniosynostosis.

PMID 17950653 2008 Achondroplasia: from genotype to phenotype.

PMID 9450868 1998 Comparison of clinical-radiological and molecular findings in hypochondroplasia.

PMID 7670477 1995 A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

PMID 7847369 1995 Achondroplasia is defined by recurrent G380R mutations of FGFR3.

PMID 10777366 2000 Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

PMID 12707965 2003 Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

PMID 10213050 1999 "Let's call it ""Crouzonodermoskeletal syndrome"" so we won't be prisoners of our own conventional terminology."

PMID 4078868 1985 Phenotypic variation in LADD syndrome.

PMID 24864036 2014 A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.

PMID 25356217 2013 Growth and development in thanatophoric dysplasia - an update 25 years later.

PMID 25931420 2015 Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.

PMID 22045636 2012 Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.

PMID 26740388 2016 Muenke syndrome: An international multicenter natural history study.

PMID 26028288 2015 Executive Function and Adaptive Behavior in Muenke Syndrome.

rs372754256 in FLG;FLG-AS1 gene and Dysmorphic features

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 20790920 1966 Clinical features of autosomal dominant and sex-linked ichthyosis in an English population.

PMID 21173567 2011 Filaggrin gene defects and the risk of developing allergic disorders.

PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

PMID 17417636 2007 Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.

rs1557179659 in FLNA gene and Dysmorphic features

PMID 17190868 2007 Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

PMID 10449643 1999 Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.

PMID 11914408 2002 Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.

PMID 11532987 2001 Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

PMID 16926860 2007 Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.

PMID 15917206 2005 Filamin A: phenotypic diversity.

PMID 16835913 2006 Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

PMID 17632775 2007 Filamin A mutation is one cause of FG syndrome.

PMID 26686323 2016 Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

PMID 28411558 2017 Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.

PMID 27739212 2017 Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

PMID 26471271 2015 47 patients with FLNA associated periventricular nodular heterotopia.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 23037936 2013 Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 20598277 2010 Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

rs1554109707 in FLT4 gene and Dysmorphic features

PMID 19002718 2009 Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.

PMID 24167460 2013 Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.

PMID 23074044 2013 FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

PMID 9817924 1998 Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

PMID 15689446 2005 Milroy disease and the VEGFR-3 mutation phenotype.

PMID 12960217 2003 Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

rs1555321367 in FOXG1 gene and Dysmorphic features

PMID 19578037 2010 Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

PMID 28544139 2017 RettBASE: Rett syndrome database update.

PMID 27640358 2016 Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

PMID 18571142 2008 FOXG1 is responsible for the congenital variant of Rett syndrome.

PMID 22998673 2012 Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

PMID 27001178 2016 Visual impairment in FOXG1-mutated individuals and mice.

PMID 20356955 2010 FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation.

PMID 24836831 2014 Epilepsy and outcome in FOXG1-related disorders.

PMID 21441262 2011 The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

PMID 2760358 1989 Prospective observations on stopping prolonged venom immunotherapy.

PMID 26344814 2016 The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.

PMID 26364767 2015 Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

PMID 27029630 2016 Delineation of the movement disorders associated with FOXG1 mutations.

PMID 24766421 2014 Somatic mosaicism for a FOXG1 mutation: diagnostic implication.

PMID 25565401 2015 Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.

rs1553667322 in FOXP1 gene and Dysmorphic features

PMID 24214399 2013 FOXP1 mutations cause intellectual disability and a recognizable phenotype.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

PMID 20950788 2010 De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

PMID 26647308 2016 Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

PMID 25853299 2015 A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.

PMID 12692134 2003 Multiple domains define the expression and regulatory properties of Foxp1 forkhead transcriptional repressors.

PMID 22670142 2012 Mild to Moderate Intellectual Disability and Significant Speech and Language Deficits in Patients with FOXP1 Deletions and Mutations.

PMID 21572417 2011 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

PMID 20571508 2010 Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.

rs387907087 in FOXRED1 gene and Dysmorphic features

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 27215383 2016 A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.

PMID 22499348 2012 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

PMID 20858599 2010 FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.

rs5030869 in G6PD gene and Dysmorphic features

PMID 7283560 1981 Sickle cell trait and glucose-6-phosphate dehydrogenase deficiency. Effects on health and military performance in black Navy enlistees.

PMID 2633878 1989 Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group.

PMID 9427729 1998 Mortality in a cohort of men expressing the glucose-6-phosphate dehydrogenase deficiency.

PMID 18177777 2008 Glucose-6-phosphate dehydrogenase deficiency.

PMID 15735168 2005 An Ashkenazi Jewish woman presenting with favism.

rs386834236 in GAA gene and Dysmorphic features

PMID 25526786 2014 Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

PMID 19542901 2009 Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.

PMID 17853454 2007 Sibling phenotype concordance in classical infantile Pompe disease.

PMID 23430493 2013 Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

PMID 21757382 2011 Rapid progressive course of later-onset Pompe disease in Chinese patients.

PMID 21631931 2011 Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.

PMID 24107549 2013 Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

PMID 23531252 2013 Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study.

PMID 8558570 1995 Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.

PMID 3132435 1988 Glycogen storage disease type II in Israel.

PMID 17151339 2007 Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

PMID 25673129 2015 Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.

PMID 16702877 2006 Pompe disease diagnosis and management guideline.

PMID 16737883 2006 A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.

PMID 12897283 2003 The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.

PMID 18458862 2008 Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.

PMID 8990003 1997 Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.

PMID 15985590 2005 Disease severity in children and adults with Pompe disease related to age and disease duration.

rs587777308 in GABRA1 gene and Dysmorphic features

PMID 20551311 2010 GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors.

PMID 16718694 2006 A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.

PMID 21714819 2011 Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 22190369 2011 Rare copy number variants are an important cause of epileptic encephalopathies.

PMID 11992121 2002 Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

PMID 26918889 2016 De novo GABRA1 mutations in Ohtahara and West syndromes.

PMID 27521439 2016 Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

PMID 9126483 1997 Structure and organization of GABRB3 and GABRA5.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 24811917 2014 Copy number variation plays an important role in clinical epilepsy.

rs1555401440 in GABRB3 gene and Dysmorphic features

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 28053010 2017 Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

PMID 26645412 2016 GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

PMID 26950270 2016 Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

PMID 27622563 2016 Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

PMID 18514161 2008 Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

PMID 24999380 2014 Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 28607477 2017 GABA_A receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders.

rs1028668536 in GALNS gene and Dysmorphic features

PMID 23385297 2013 Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

PMID 7741581 1995 The mucopolysaccharidoses: a clinical review and guide to management.

PMID 12728175 2003 Upper airways abnormalities and tracheal problems in Morquio's disease.

PMID 28428354 2017 Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.

PMID 25897204 2015 Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.

PMID 23371450 2013 Diagnosing mucopolysaccharidosis IVA.

PMID 27774754 2017 Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.

PMID 16287098 2005 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

PMID 22358740 2013 Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.

PMID 9189888 1997 MRI of the brain and craniocervical junction in Morquio's disease.

PMID 22543891 2012 Functional capacity evaluation of patients with mucopolysaccharidosis.

PMID 16539564 2006 Multidisciplinary treatment approach of Morquio syndrome (Mucopolysaccharidosis Type IVA).

PMID 21506915 2011 Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.

PMID 17347914 2007 International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.

rs121917883 in GHSR gene and Dysmorphic features

PMID 27023906 2016 Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.

PMID 21646290 2011 Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.

PMID 16511605 2006 Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.

PMID 19789204 2009 Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.

rs1554200990 in GJA1 gene and Dysmorphic features

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 24133447 2013 Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

PMID 27241686 2016 A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.

PMID 19615768 2010 Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects.

PMID 19338053 2009 GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

PMID 23675785 2014 Overview of skin diseases linked to connexin gene mutations.

PMID 16816024 2006 A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

PMID 12457340 2003 Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

PMID 25976645 2015 A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

PMID 27226478 2016 Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

PMID 16531323 2007 Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

PMID 14974090 2004 A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

rs111033451 in GJB2 gene and Dysmorphic features

PMID 21465647 2011 Vestibular dysfunction in DFNB1 deafness.

PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

PMID 15482471 2004 Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

PMID 15365987 2004 GJB2: the spectrum of deafness-causing allele variants and their phenotype.

PMID 18804553 2009 Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

PMID 12072059 2002 HID and KID syndromes are associated with the same connexin 26 mutation.

PMID 11918723 2002 A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.

PMID 10633135 2000 A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).

PMID 10369869 1999 A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

PMID 10807696 2000 A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.

PMID 25937001 2015 Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

PMID 11493200 2001 Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.

PMID 26940866 2016 Health and population effects of rare gene knockouts in adult humans with related parents.

rs1553262429 in GJC2 gene and Dysmorphic features

PMID 20537300 2010 GJC2 missense mutations cause human lymphedema.

PMID 22610664 2012 A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

PMID 15192806 2004 Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

PMID 19056803 2009 Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

PMID 23621851 2013 The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.

PMID 21266381 2011 Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

PMID 24374284 2014 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

rs1553479405 in GLI2 gene and Dysmorphic features

PMID 21204792 2012 Clinical findings in patients with GLI2 mutations--phenotypic variability.

PMID 15994174 2005 A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.

PMID 14581620 2003 Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

PMID 22967285 2013 Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.

PMID 20685856 2010 Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

rs1555891562 in GNAS gene and Dysmorphic features

PMID 8383205 1993 Imprinting in Albright's hereditary osteodystrophy.

PMID 23281139 2013 Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.

PMID 23884777 2013 Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

PMID 25802881 2015 A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.

PMID 17161328 2006 Mutations in the Gs alpha gene causing hormone resistance.

PMID 27431290 2017 Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

PMID 11600516 2001 Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.

PMID 14561710 2003 Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

PMID 18796523 2008 Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.

PMID 10980525 2000 Activating and inactivating mutations in the human GNAS1 gene.

rs1555868362 in GNAS;GNAS-AS1 gene and Dysmorphic features

PMID 23281139 2013 Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.

PMID 23884777 2013 Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

PMID 25802881 2015 A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.

PMID 17161328 2006 Mutations in the Gs alpha gene causing hormone resistance.

PMID 18796523 2008 Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.

PMID 27431290 2017 Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

PMID 14561710 2003 Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

PMID 11600516 2001 Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.

PMID 8383205 1993 Imprinting in Albright's hereditary osteodystrophy.

PMID 10980525 2000 Activating and inactivating mutations in the human GNAS1 gene.

rs1429181351 in GNPTAB gene and Dysmorphic features

PMID 16200072 2005 Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.

PMID 19634183 2009 Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

PMID 20367762 2010 The natural history and osteodystrophy of mucolipidosis types II and III.

PMID 26749367 2016 Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

PMID 23192343 2013 Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif.

PMID 20147709 2010 Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

PMID 19197337 2009 Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

PMID 16630736 2006 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

PMID 19617216 2010 Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

rs746781699 in GPD1 gene and Dysmorphic features

PMID 24549054 2014 A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

PMID 22226083 2012 Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.

PMID 28944580 2017 Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature.

rs1437184398 in GPT2 gene and Dysmorphic features

PMID 29226631 2018 Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.

PMID 27601654 2016 Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.

PMID 28130718 2017 A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.

PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.

PMID 25758935 2015 Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.

rs1554770044 in GRIN1 gene and Dysmorphic features

PMID 28051072 2017 Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

PMID 27164704 2016 Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

PMID 28389307 2017 De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

PMID 25864721 2015 GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

PMID 22606296 2012 Overstimulation of NMDA receptors impairs early brain development in vivo.

PMID 23933818 2013 GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

PMID 23937349 2013 Integrative mechanisms of oriented neuronal migration in the developing brain.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 1834949 1991 Molecular cloning and characterization of the rat NMDA receptor.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 17315208 2007 Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 25838242 2015 The GluN2B subunit of N-methy-D-asparate receptor regulates the radial migration of cortical neurons in vivo.

PMID 2516786 1989 Luteinizing hormone and follicle stimulating hormone secretion patterns in boys throughout puberty measured using highly sensitive immunoradiometric assays.

PMID 22974439 2013 Functional insights from glutamate receptor ion channel structures.

PMID 22796429 2013 The NMDA receptor as a target for cognitive enhancement.

PMID 20890276 2010 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PMID 17910072 2007 The chromosome 9q subtelomere deletion syndrome.

PMID 16635252 2006 Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 9526012 1998 Evidence for a tetrameric structure of recombinant NMDA receptors.

PMID 16402093 2006 The glutamate story.

PMID 7679115 1993 Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor.

PMID 16600850 2006 NMDA receptors, glial cells, and clinical medicine.

PMID 6306230 1983 Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus.

rs1348467293 in GUCY2D gene and Dysmorphic features

PMID 24997176 2014 Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

PMID 20517349 2010 A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

PMID 25515582 2014 Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

PMID 29061346 2018 Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.

PMID 12365911 2002 Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

PMID 10951519 2000 Spectrum of retGC1 mutations in Leber's congenital amaurosis.

PMID 19959640 2010 Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.

PMID 17651254 2007 Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.

PMID 23035049 2013 Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

rs1131690805 in H1-4;H2BC5 gene and Dysmorphic features

PMID 25081361 2015 Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 23945933 2013 H1 histones: current perspectives and challenges.

rs1276519904 in H3-3A gene and Dysmorphic features

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 10556297 1999 A retroviral gene trap insertion into the histone 3.3A gene causes partial neonatal lethality, stunted growth, neuromuscular deficits and male sub-fertility in transgenic mice.

PMID 21782046 2011 The human histone H3 complement anno 2011.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 16472024 2009 Recognition and classification of histones using support vector machine.

PMID 26139371 2015 Critical Role of Histone Turnover in Neuronal Transcription and Plasticity.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 23415232 2013 Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer.

PMID 17220215 2007 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

PMID 9441765 1997 Localization of the human H3F3A histone gene to 1q41, outside of the normal histone gene clusters.

PMID 25348405 2015 UniProt: a hub for protein information.

rs763344375 in HCFC1R1;THOC6 gene and Dysmorphic features

PMID 11060033 2000 A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae.

PMID 15998806 2005 Recruitment of the human TREX complex to mRNA during splicing.

PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

PMID 26739162 2016 Confirming the candidacy of THOC6 in the etiology of intellectual disability.

PMID 19059247 2009 Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).

PMID 20503307 2010 A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.

rs397515417 in HDAC8 gene and Dysmorphic features

PMID 24038889 2013 Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

PMID 24718998 2014 Autism traits in children and adolescents with Cornelia de Lange syndrome.

PMID 15146186 2004 Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

PMID 25209348 2015 Cornelia de Lange syndrome.

PMID 17640042 2007 Natural history of aging in Cornelia de Lange syndrome.

PMID 22889856 2012 X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

PMID 24403048 2014 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

PMID 15146185 2004 NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

PMID 26671848 2016 Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

PMID 19886810 2009 Cohesin: its roles and mechanisms.

PMID 22885700 2012 HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

rs1553629086 in HECW2 gene and Dysmorphic features

PMID 27389779 2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

PMID 27334371 2016 Mutations in HECW2 are associated with intellectual disability and epilepsy.

PMID 16179223 2005 The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 25961944 2015 Excess of rare, inherited truncating mutations in autism.

PMID 25555806 2015 NEDL2 is an essential regulator of enteric neural development and GDNF/Ret signaling.

PMID 24163370 2013 The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

rs1555815393 in HNF4A gene and Dysmorphic features

PMID 8945471 1996 Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

PMID 17407387 2007 Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

PMID 11575290 2001 Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.

PMID 9371825 1997 The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism.

PMID 22802087 2012 Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

PMID 24285859 2014 The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.

PMID 22654519 2012 Clinical features and treatment of maturity onset diabetes of the young (MODY).

rs1554698878 in HNRNPK gene and Dysmorphic features

PMID 11574481 2001 The major mRNA-associated protein YB-1 is a potent 5' cap-dependent mRNA stabilizer.

PMID 12183465 2002 An RNA helicase, DDX1, interacting with poly(A) RNA and heterogeneous nuclear ribonucleoprotein K.

PMID 9234727 1997 The product of the murine homolog of the Drosophila extra sex combs gene displays transcriptional repressor activity.

PMID 26954065 2016 A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

PMID 11891683 2002 Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.

PMID 26173930 2015 GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

PMID 10817758 2000 Nucleolin and YB-1 are required for JNK-mediated interleukin-2 mRNA stabilization during T-cell activation.

PMID 24501764 2014 Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.

PMID 8833161 1996 Assignment of human KH-box-containing genes by in situ hybridization: HNRNPK maps to 9q21.32-q21.33, PCBP1 to 2p12-p13, and PCBP2 to 12q13.12-q13.13, distal to FRA12A.

PMID 10995551 2000 Localization and phosphorylation of Abl-interactor proteins, Abi-1 and Abi-2, in the developing nervous system.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 12853611 2003 Transient recruitment of the hnRNP K protein to inducibly transcribed gene loci.

PMID 15170860 2004 hnRNP K: one protein multiple processes.

PMID 9218800 1997 The K nuclear shuttling domain: a novel signal for nuclear import and nuclear export in the hnRNP K protein.

PMID 10523673 1999 The levels of the bancal product, a Drosophila homologue of vertebrate hnRNP K protein, affect cell proliferation and apoptosis in imaginal disc cells.

PMID 11867641 2002 Heterogeneous nuclear ribonucleoprotein (hnRNP) K is a component of an intronic splicing enhancer complex that activates the splicing of the alternative exon 6A from chicken beta-tropomyosin pre-mRNA.

PMID 15364910 2004 Phylogenetically conserved binding of specific K homology domain proteins to the 3'-untranslated region of the vertebrate middle neurofilament mRNA.

PMID 20116073 2010 Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.

PMID 24990929 2014 Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 24288371 2014 Pfam: the protein families database.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 16488668 2006 Cell-type-specific and developmental regulation of heterogeneous nuclear ribonucleoprotein K mRNA in the rat nervous system.

PMID 28374925 2018 Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

PMID 23455423 2013 Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

PMID 22102872 2011 Heterogeneous nuclear ribonucleoprotein k interacts with Abi-1 at postsynaptic sites and modulates dendritic spine morphology.

PMID 19170760 2009 hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 18054780 2008 Dynamic endogenous association of neurofilament mRNAs with K-homology domain ribonucleoproteins in developing cerebral cortex.

rs1553283037 in HNRNPU gene and Dysmorphic features

PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

PMID 20795951 2010 Functional diversity of the hnRNPs: past, present and perspectives.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 22678713 2012 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 28944577 2017 De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

PMID 28815871 2017 Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 28393272 2017 Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

PMID 26845106 2016 Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

rs1556026984 in HPRT1 gene and Dysmorphic features

PMID 23975452 2014 Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

PMID 25612837 2015 New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

PMID 25503620 2015 Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.

rs1555377234 in IRF2BPL gene and Dysmorphic features

PMID 17627301 2007 Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 21444724 2011 A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 11095982 2000 Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.

rs1427624649 in KANSL1 gene and Dysmorphic features

PMID 26293599 2015 KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.

PMID 22544363 2012 Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

PMID 26424144 2015 Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

PMID 26306646 2016 The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

PMID 22544367 2012 Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

rs199472921 in KCNH2 gene and Dysmorphic features

PMID 21130771 2011 A novel mutation in the KCNH2 gene associated with short QT syndrome.

PMID 25974115 2015 Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 17210839 2007 Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.

PMID 18835466 2008 Long QT Syndrome.

PMID 24400717 2014 Gain-of-function KCNH2 mutations in patients with Brugada syndrome.

PMID 27761161 2016 Molecular pathogenesis of long QT syndrome type 2.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 12925462 2003 Short QT Syndrome: a familial cause of sudden death.

PMID 16926178 2006 Short QT syndrome: clinical findings and diagnostic-therapeutic implications.

PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PMID 11136691 2001 Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

PMID 15828882 2005 Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

PMID 10220144 1999 Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

rs1555850868 in KCNQ2 gene and Dysmorphic features

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 22169383 2012 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

PMID 18238816 2008 Nervous system KV7 disorders: breakdown of a subthreshold brake.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

PMID 17872363 2007 Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

PMID 17675531 2007 Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 15608631 2005 Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

PMID 10781098 2000 Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 10323247 1999 Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.

PMID 9430594 1998 A potassium channel mutation in neonatal human epilepsy.

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 8327138 1993 Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

PMID 28602030 2017 Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 27861786 2017 Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

PMID 6965523 1980 Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone.

PMID 27602407 2016 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

PMID 29129156 2017 A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs199422235 in KDM5C gene and Dysmorphic features

PMID 26919706 2016 Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

PMID 23999528 2014 Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.

PMID 15586325 2005 Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

PMID 17320160 2007 The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.

PMID 18203167 2008 A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).

PMID 19826449 2010 Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

PMID 27421841 2016 Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.

PMID 16541399 2006 Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

PMID 25666439 2015 Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

PMID 17468742 2007 The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

PMID 24583395 2014 KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.

PMID 18697827 2008 Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

rs1057517955 in KDM5C;MIR6894 gene and Dysmorphic features

PMID 18203167 2008 A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).

PMID 23999528 2014 Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.

PMID 16541399 2006 Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

PMID 17320160 2007 The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.

PMID 17468742 2007 The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

PMID 18697827 2008 Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

PMID 24583395 2014 KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.

PMID 25666439 2015 Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

PMID 19826449 2010 Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

PMID 26919706 2016 Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

PMID 15586325 2005 Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

PMID 27421841 2016 Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.

rs1556308480 in KDM6A gene and Dysmorphic features

PMID 9499428 1998 The UTX gene escapes X inactivation in mice and humans.

PMID 23913813 2013 MLL2 and KDM6A mutations in patients with Kabuki syndrome.

PMID 24664873 2014 A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

PMID 27302555 2016 Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

PMID 23354975 2013 Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

PMID 18434530 2008 Sex-specific differences in expression of histone demethylases Utx and Uty in mouse brain and neurons.

PMID 24527667 2015 Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

PMID 23076834 2013 KDM6A point mutations cause Kabuki syndrome.

PMID 19330029 2009 Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.

PMID 22197486 2012 Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

PMID 15690370 2005 Further delineation of Kabuki syndrome in 48 well-defined new individuals.

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 17178841 2007 Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth.

PMID 15690368 2005 Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.

PMID 22192413 2012 UTX, a histone H3-lysine 27 demethylase, acts as a critical switch to activate the cardiac developmental program.

rs1554863044 in KIF11 gene and Dysmorphic features

PMID 28494495 2017 Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.

PMID 27212378 2016 Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis.

PMID 28785766 2017 Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.

PMID 25115524 2014 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.

PMID 25996076 2016 Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.

PMID 24281367 2014 Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

PMID 25934493 2015 No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

PMID 25124931 2014 Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

PMID 22284827 2012 Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

PMID 26472404 2016 KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.

rs781752990 in KIF7 gene and Dysmorphic features

PMID 23125460 2012 Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.

PMID 21633164 2011 Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

PMID 9066878 1997 Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome.

PMID 22587682 2012 A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

PMID 25714560 2015 A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.

PMID 14738752 2004 Hedgehog signaling: Costal-2 bridges the transduction gap.

PMID 7424976 1980 Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

PMID 21552264 2011 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

rs150800017 in KMT2A gene and Dysmorphic features

PMID 8361504 1993 Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.

PMID 7802037 1994 "Hypertrichosis ""cubiti"" with facial asymmetry."

PMID 25929198 2015 A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

PMID 27777327 2017 Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

PMID 23457195 2013 Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.

PMID 12453418 2002 MLL targets SET domain methyltransferase activity to Hox gene promoters.

PMID 24886118 2014 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

PMID 7583381 1995 Abnormalities of chromosome band 11q23 and the MLL gene in pediatric myelomonocytic and monoblastic leukemias. Identification of the t(9;11) as an indicator of long survival.

PMID 25810209 2016 Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

PMID 2738900 1989 Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

PMID 8634439 1996 Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase II consensus binding sites.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 25186178 2014 Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 25574841 2015 Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

PMID 22197486 2012 Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

PMID 28359930 2017 Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

PMID 22795537 2012 De novo mutations in MLL cause Wiedemann-Steiner syndrome.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

PMID 27759909 2017 Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

PMID 20541448 2010 Multiple interactions recruit MLL1 and MLL1 fusion proteins to the HOXA9 locus in leukemogenesis.

rs1555052879 in KMT2A;LOC101929089 gene and Dysmorphic features

PMID 2738900 1989 Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

PMID 25186178 2014 Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

PMID 25929198 2015 A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 25574841 2015 Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

PMID 22197486 2012 Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

PMID 25810209 2016 Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

PMID 27759909 2017 Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

PMID 28359930 2017 Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

PMID 22795537 2012 De novo mutations in MLL cause Wiedemann-Steiner syndrome.

PMID 24886118 2014 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

PMID 23457195 2013 Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.

PMID 7802037 1994 "Hypertrichosis ""cubiti"" with facial asymmetry."

PMID 8361504 1993 Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.

PMID 20541448 2010 Multiple interactions recruit MLL1 and MLL1 fusion proteins to the HOXA9 locus in leukemogenesis.

PMID 7583381 1995 Abnormalities of chromosome band 11q23 and the MLL gene in pediatric myelomonocytic and monoblastic leukemias. Identification of the t(9;11) as an indicator of long survival.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 8634439 1996 Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase II consensus binding sites.

PMID 27777327 2017 Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

PMID 12453418 2002 MLL targets SET domain methyltransferase activity to Hox gene promoters.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

rs1555184787 in KMT2D gene and Dysmorphic features

PMID 16603732 2006 Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 27991736 2017 KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

PMID 27778401 2017 Pilomatricoma Associated with Kabuki Syndrome.

PMID 26194542 2016 Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.

PMID 14699623 2004 Hepatic fibrosis in Kabuki syndrome.

PMID 26898171 2016 Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

PMID 26049589 2015 Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

PMID 27573763 2016 A novel KMT2D mutation resulting in Kabuki syndrome: A case report.

PMID 14608645 2003 Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

PMID 25972376 2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

PMID 23320472 2013 MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

PMID 12482968 2003 Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.

PMID 27568880 2016 Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 22304445 2013 Multiple pilomatricomas in Kabuki syndrome.

PMID 22126750 2012 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

PMID 28256057 2017 Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

PMID 28884889 2017 Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

PMID 28884922 2017 Congenital heart defects in molecularly proven Kabuki syndrome patients.

PMID 28295206 2017 Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

PMID 9285441 1997 Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.

PMID 3067577 1988 Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

rs1555027828 in KMT5B gene and Dysmorphic features

PMID 15145825 2004 A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin.

PMID 23665959 2013 De novo mutations in histone-modifying genes in congenital heart disease.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

rs1426926688 in LAMC3 gene and Dysmorphic features

PMID 21572413 2011 Recessive LAMC3 mutations cause malformations of occipital cortical development.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

rs104894419 in LIG4 gene and Dysmorphic features

PMID 26762768 2016 Molecular and immunological characterization of DNA ligase IV deficiency.

PMID 16357942 2006 A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

PMID 26172957 2015 Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.

PMID 17345618 2007 Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome.

PMID 26151233 2015 Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity.

PMID 23372718 2013 Identification of the DNA repair defects in a case of Dubowitz syndrome.

PMID 16088910 2005 A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

PMID 15333585 2004 Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.

rs761533681 in LINC02245;SLC1A4;LOC107984063 gene and Dysmorphic features

PMID 25930971 2015 A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

PMID 26138499 2015 SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

PMID 19963421 2010 L-serine synthesis in the central nervous system: a review on serine deficiency disorders.

PMID 26041762 2015 Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

PMID 1395931 1992 Calmodulin and protein kinase C cross-talk: the MARCKS protein is an actin filament and plasma membrane cross-linking protein regulated by protein kinase C phosphorylation and by calmodulin.

PMID 27193218 2016 Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.

rs80338709 in LOC100130283;PMM2 gene and Dysmorphic features

PMID 26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

PMID 26805780 2016 Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 11343337 2001 Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

PMID 10854097 2000 Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

PMID 28425223 2017 Three families with mild PMM2-CDG and normal cognitive development.

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 28373276 2017 Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 24498599 2013 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

rs121434407 in LOC101929270;GLE1 gene and Dysmorphic features

PMID 23421748 2013 Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences.

PMID 18204449 2008 Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

PMID 25343993 2015 Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

PMID 27684565 2017 Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

PMID 24961629 2015 An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

PMID 28884921 2017 Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

PMID 3993672 1985 A lethal autosomal recessive syndrome of multiple congenital contractures.

rs1555179320 in LOC105369689;ABCC9 gene and Dysmorphic features

PMID 17245405 2007 KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.

PMID 15034580 2004 ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.

PMID 22610116 2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.

PMID 10398267 1999 Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.

PMID 21344641 2011 Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.

PMID 16835932 2006 Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.

PMID 23307537 2013 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

PMID 22608503 2012 Cantú syndrome is caused by mutations in ABCC9.

rs1555165501 in LOC105369752;COL2A1 gene and Dysmorphic features

PMID 20513134 2010 Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

PMID 26626311 2016 The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

PMID 20179744 2010 Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

PMID 22791362 2012 Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

PMID 10353778 1999 Clinical and Molecular genetics of Stickler syndrome.

PMID 25604898 2015 A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

PMID 26250472 2015 Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).

PMID 12848929 2003 Basic helix-loop-helix factors in cortical development.

PMID 12925722 2003 A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.

PMID 26358419 2016 Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.

PMID 1971141 1990 Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).

PMID 9724608 1998 Gly-X-Y tripeptide frequencies in collagen: a context for host-guest triple-helical peptides.

PMID 26345137 2015 Association between Kniest dysplasia and chondrosarcoma in a child.

rs568049240 in LOC105372273;DOCK6 gene and Dysmorphic features

PMID 28884918 2017 Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.

PMID 25824905 2015 DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

PMID 28160419 2017 Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 23522784 2013 Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

rs797044523 in LOC105372797;DYRK1A gene and Dysmorphic features

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 22918246 2012 Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control.

PMID 23099646 2012 The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

PMID 19383720 2009 Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A.

PMID 19685005 2009 Function and regulation of Dyrk1A: towards understanding Down syndrome.

PMID 21204217 2011 Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

PMID 12192061 2002 Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.

PMID 18364031 2008 The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development.

PMID 12814361 2003 Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation.

PMID 25707398 2016 Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

PMID 18405873 2008 Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

PMID 2143053 1990 Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

PMID 21294719 2011 Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

PMID 17237124 2007 Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

PMID 26922654 2016 Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

PMID 23512985 2013 Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome.

rs869320713 in LOC107984190;ZMYND11 gene and Dysmorphic features

PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.

rs869320686 in LZTR1 gene and Dysmorphic features

PMID 28295212 2017 Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager.

PMID 25480913 2015 Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.

PMID 25335493 2015 Expanding the mutational spectrum of LZTR1 in schwannomatosis.

PMID 27472264 2016 Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.

PMID 23401320 2013 Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.

PMID 22105938 2012 Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis.

PMID 27856782 2017 Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.

PMID 24362817 2014 Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

PMID 18072270 2008 Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.

PMID 25795793 2015 Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

PMID 19582488 2010 Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.

PMID 16356934 2006 The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis.

rs1555374117 in MAGEL2 gene and Dysmorphic features

PMID 24076603 2013 Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

PMID 24661356 2014 Clinical phenotypes of MAGEL2 mutations and deletions.

PMID 21248145 2011 Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice.

PMID 25473036 2014 Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

PMID 19172181 2009 Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice.

PMID 26365340 2015 Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

PMID 19066619 2009 A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.

PMID 17728320 2007 Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.

PMID 11891783 2002 The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease.

PMID 8424017 1993 Prader-Willi syndrome: consensus diagnostic criteria.

rs1382373816 in MAN1B1 gene and Dysmorphic features

PMID 24348268 2013 MAN1B1 deficiency: an unexpected CDG-II.

PMID 26279649 2015 MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.

PMID 21763484 2011 Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

PMID 24566669 2014 Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

PMID 26577042 2016 Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.

rs80338677 in MAN2B1 gene and Dysmorphic features

PMID 9758606 1998 Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

PMID 12816222 2003 Hearing loss due to mannosidosis and otitis media with effusion. A case report and review of audiological assessments in children with otitis media with effusion.

PMID 26048034 2015 Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

PMID 7307317 1981 Mannosidosis: two brothers with different degrees of disease severity.

PMID 18651971 2008 Alpha-mannosidosis.

PMID 22161967 2012 Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.

rs121908595 in MAP2K1 gene and Dysmorphic features

PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

PMID 25423878 2015 A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

PMID 24101678 2014 Autism traits in the RASopathies.

PMID 22753777 2012 MEK genomics in development and disease.

PMID 22589294 2012 Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy.

PMID 27862862 2017 Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.

PMID 12529707 2003 PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

PMID 12239713 2002 CFC index for the diagnosis of cardiofaciocutaneous syndrome.

PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

PMID 20958325 2010 Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

PMID 19156172 2009 Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

PMID 21654472 2011 Orthopaedic conditions in Ras/MAPK related disorders.

rs606231189 in MAP3K15;PDHA1 gene and Dysmorphic features

PMID 7887408 1995 Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

PMID 15384102 2004 Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

PMID 27144126 2016 Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

PMID 25526709 2015 The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

PMID 23021068 2012 Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

PMID 26008863 2015 Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

PMID 21914562 2011 Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

PMID 26944031 2016 Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

PMID 10679936 2000 Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

PMID 27896109 2014 Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

rs1057516904 in MCOLN1 gene and Dysmorphic features

PMID 11461186 2001 Mucolipidosis type IV.

PMID 12182165 2002 The neurogenetics of mucolipidosis type IV.

PMID 11317355 2001 Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

PMID 11845410 2002 Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

PMID 11874766 2002 Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV.

PMID 9710036 1998 Mucolipidosis type IV: characteristic MRI findings.

PMID 24332805 2014 Quantitative neuroimaging in mucolipidosis type IV.

PMID 27357649 2016 MCOLN1 is a ROS sensor in lysosomes that regulates autophagy.

PMID 9448310 1998 Constitutive achlorhydria in mucolipidosis type IV.

PMID 25668017 2015 Lysosomal physiology.

PMID 9680151 1998 Electroencephalographic findings in patients with mucolipidosis type IV.

rs61750240 in MECP2 gene and Dysmorphic features

PMID 11035019 2001 DNA recognition by the methyl-CpG binding domain of MeCP2.

PMID 11058114 2000 Functional consequences of Rett syndrome mutations on human MeCP2.

PMID 10508514 1999 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

PMID 21154482 2010 Rett syndrome: revised diagnostic criteria and nomenclature.

PMID 24399845 2014 Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

PMID 24458799 2014 MECP2 duplication: possible cause of severe phenotype in females.

PMID 15057977 2004 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

PMID 18337588 2008 Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

PMID 11227330 2001 Epilepsy in a representative series of Rett syndrome.

PMID 27354166 2016 Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

PMID 17267601 2007 Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

PMID 8177735 1993 Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2.

PMID 23421866 2013 Using a large international sample to investigate epilepsy in Rett syndrome.

PMID 16832102 2006 Early progressive encephalopathy in boys and MECP2 mutations.

PMID 17351020 2007 MECP2 mutations in males.

PMID 12615169 2003 Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

PMID 16169931 2006 Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

PMID 15558314 2005 Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.

PMID 17236109 2006 Male Rett phenotypes in T158M and R294X MeCP2-mutations.

rs1556334793 in MED12 gene and Dysmorphic features

PMID 26273451 2015 Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

PMID 8279489 1993 Two additional cases of the Ohdo blepharophimosis syndrome.

PMID 23395478 2013 Mutations in MED12 cause X-linked Ohdo syndrome.

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

PMID 26338144 2015 Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

PMID 24039113 2013 Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

PMID 20970104 2010 Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.

PMID 17036352 2006 Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.

PMID 17334363 2007 A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

PMID 17369503 2007 The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

PMID 20507344 2011 A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).

PMID 17103446 2006 Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report.

PMID 10405444 1999 Clinical and behavioral characteristics in FG syndrome.

PMID 16700052 2006 Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

rs1555240361 in MED13L gene and Dysmorphic features

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 25758992 2015 Redefining the MED13L syndrome.

PMID 28371282 2017 MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 28588821 2017 Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

PMID 28645799 2017 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

PMID 5167861 1971 [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis].

PMID 29159987 2018 MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 24781760 2015 Further confirmation of the MED13L haploinsufficiency syndrome.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

PMID 23403903 2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

PMID 25137640 2014 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

PMID 14638541 2003 Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

rs1554139723 in MEF2C gene and Dysmorphic features

PMID 19592390 2010 MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.

PMID 17959722 2007 MEF2: a central regulator of diverse developmental programs.

PMID 18579729 2008 Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 27255693 2016 MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.

PMID 23389741 2013 MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

PMID 22498567 2012 Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.

PMID 19471318 2009 A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.

PMID 22670137 2012 The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.

PMID 20513142 2010 Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

rs28940579 in MEFV gene and Dysmorphic features

PMID 9288758 1997 Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.

PMID 4015155 1985 Remission of progressive renal failure in familial Mediterranean fever during colchicine treatment.

PMID 28386255 2017 Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management.

PMID 25760918 2016 Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.

PMID 5340644 1967 Familial Mediterranean fever. A survey of 470 cases and review of the literature.

PMID 22878273 2012 Familial Mediterranean fever: new phenotypes.

PMID 20485448 2010 Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations.

PMID 9668175 1998 Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

PMID 16785446 2006 The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.

PMID 15868622 2005 Arthritis as the sole episodic manifestation of familial Mediterranean fever.

PMID 24424166 2014 Diagnostic criteria of familial Mediterranean fever.

PMID 11468188 2001 The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.

rs1382444181 in METTL23 gene and Dysmorphic features

PMID 24501276 2014 METTL23, a transcriptional partner of GABPA, is essential for human cognition.

PMID 24626631 2014 Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.

rs1555446980 in MIR1469;NR2F2 gene and Dysmorphic features

PMID 21172461 2011 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.

PMID 16251273 2005 Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.

PMID 15750894 2005 Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

PMID 24702954 2014 Rare variants in NR2F2 cause congenital heart defects in humans.

PMID 18371933 2008 Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.

PMID 24702427 2015 Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

PMID 10215630 1999 The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 18798693 2008 Identification of COUP-TFII orphan nuclear receptor as a retinoic acid-activated receptor.

rs1553353206 in MIR4742;WDR26 gene and Dysmorphic features

PMID 28686853 2017 WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

rs1556836399 in MIR6895;KDM5C gene and Dysmorphic features

PMID 18203167 2008 A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).

PMID 19826449 2010 Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

PMID 26919706 2016 Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

PMID 17320160 2007 The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.

PMID 25666439 2015 Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

PMID 17468742 2007 The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

PMID 15586325 2005 Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

PMID 27421841 2016 Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.

PMID 24583395 2014 KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.

PMID 16541399 2006 Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

PMID 23999528 2014 Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.

PMID 18697827 2008 Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

rs121918243 in MMACHC gene and Dysmorphic features

PMID 26283149 2015 MMACHC gene mutation in familial hypogonadism with neurological symptoms.

PMID 16311595 2006 Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

PMID 16714133 2006 Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

PMID 19370762 2009 Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

PMID 21748409 2012 Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

PMID 26658511 2015 Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

PMID 25398587 2014 Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

rs147334255 in MN1 gene and Dysmorphic features

PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

PMID 11559848 2001 The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

PMID 11094079 2000 The MN1-TEL fusion protein, encoded by the translocation (12;22)(p13;q11) in myeloid leukemia, is a transcription factor with transforming activity.

PMID 25549701 2014 Exome sequencing on malignant meningiomas identified mutations in neurofibromatosis type 2 (NF2) and meningioma 1 (MN1) genes.

PMID 15890672 2005 The 1,25(OH)2D3-regulated transcription factor MN1 stimulates vitamin D receptor-mediated transcription and inhibits osteoblastic cell proliferation.

PMID 12569362 2003 The MN1 oncoprotein synergizes with coactivators RAC3 and p300 in RAR-RXR-mediated transcription.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 22436304 2012 Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.

PMID 15870292 2005 Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton.

PMID 7731706 1995 Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.

PMID 7731705 1995 Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11.

PMID 18948418 2008 The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.

PMID 19386590 2009 Meningioma 1 is required for appropriate osteoblast proliferation, motility, differentiation, and function.

PMID 19919682 2009 BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources.

rs1553259529 in MPZ gene and Dysmorphic features

PMID 17663472 2007 Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.

PMID 9595994 1998 Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.

PMID 11080237 2000 An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

PMID 15004559 2004 Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.

PMID 23290023 2013 Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.

PMID 14638973 2003 Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.

PMID 10406984 1999 Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PMID 10553995 1999 The Roussy-Lévy family: from the original description to the gene.

PMID 10764043 2000 "Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible ""hotspot"" on Thr124Met."

PMID 10071056 1999 The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

PMID 19293842 2009 Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.

PMID 26310628 2015 Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

rs1555907215 in MSL3 gene and Dysmorphic features

PMID 25900149 2015 The MSL complex: juggling RNA-protein interactions for dosage compensation and beyond.

PMID 15988010 2005 The MRG domain mediates the functional integration of MSL3 into the dosage compensation complex.

PMID 24898753 2014 Mof-associated complexes have overlapping and unique roles in regulating pluripotency in embryonic stem cells and during differentiation.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 20657587 2010 Corecognition of DNA and a methylated histone tail by the MSL3 chromodomain.

PMID 20943666 2010 Structural and biochemical studies on the chromo-barrel domain of male specific lethal 3 (MSL3) reveal a binding preference for mono- or dimethyllysine 20 on histone H4.

PMID 16227571 2005 A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.

rs387906397 in MYBPC3 gene and Dysmorphic features

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 23840593 2013 Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

PMID 10424815 1999 Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.

PMID 21492761 2011 Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.

PMID 7493025 1995 Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.

rs746006696 in NAGLU gene and Dysmorphic features

PMID 20852935 2010 Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

PMID 21204211 2011 Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.

PMID 15933803 2005 Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.

PMID 25818867 2015 Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.

rs1197561990 in NEB gene and Dysmorphic features

PMID 12207937 2002 Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

PMID 10051637 1999 Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

PMID 15266303 2004 Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

PMID 19805734 2009 Core-rod myopathy caused by mutations in the nebulin gene.

PMID 15336686 2004 Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

PMID 2838409 1988 Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.

PMID 21724397 2011 Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

PMID 17525139 2007 Distal myopathy caused by homozygous missense mutations in the nebulin gene.

PMID 27933661 2017 Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

rs786205208 in NEXMIF gene and Dysmorphic features

PMID 23352160 2013 Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

PMID 27568816 2017 De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.

PMID 22531377 2012 Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth.

PMID 26576034 2016 KIAA2022 nonsense mutation in a symptomatic female.

PMID 27358180 2016 De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

PMID 24307393 2014 Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

PMID 19524067 2009 Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

PMID 26290131 2015 X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.

PMID 15466006 2004 Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.

PMID 25900396 2015 Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

PMID 23615299 2013 Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

rs1064794276 in NF1 gene and Dysmorphic features

PMID 23047742 2013 Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

PMID 21089071 2011 Legius syndrome in fourteen families.

PMID 23165953 2012 Increased risk of breast cancer in women with NF1.

PMID 22041710 2011 Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 23244495 2012 Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

PMID 19117870 2009 Neurofibromatosis type 1 revisited.

PMID 16835897 2006 Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

PMID 17105749 2007 Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.

PMID 1770531 1991 Watson syndrome: is it a subtype of type 1 neurofibromatosis?

PMID 19539839 2009 Neurofibromatosis type 1.

PMID 18172006 2008 Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.

PMID 19920235 2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

PMID 20142468 2010 Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.

PMID 22429592 2012 Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

PMID 10726756 2000 Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

PMID 17369502 2007 Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening.

PMID 6025371 1967 Pulmonary stenosis, café-au-lait spots, and dull intelligence.

PMID 25324428 2015 Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency.

PMID 23812910 2013 Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

PMID 28213670 2017 Emerging genotype-phenotype relationships in patients with large NF1 deletions.

PMID 16786042 2006 A prospective study of neurofibromatosis type 1 cancer incidence in the UK.

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

PMID 9375928 1997 Do NF1 gene deletions result in a characteristic phenotype?

PMID 16542390 2006 Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

PMID 26758488 2016 Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

PMID 25325900 2014 The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

PMID 24219125 2014 Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.

PMID 26178382 2015 High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

PMID 23656349 2014 A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

PMID 25951773 2016 Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.

PMID 27170677 2017 Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.

PMID 23354915 2013 Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.

PMID 27322474 2016 Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.

rs1553182933 in NFIA gene and Dysmorphic features

PMID 22301465 2012 Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.

PMID 17530927 2007 NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 19763616 2010 A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.

PMID 24657733 2015 Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.

PMID 24098143 2013 Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

PMID 20673863 2010 Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

PMID 19058033 2009 Nuclear factor one transcription factors in CNS development.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 24462883 2014 An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

PMID 27081522 2015 Truncating mutation in NFIA causes brain malformation and urinary tract defects.

PMID 10518556 1999 Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.

rs1553666033 in NGLY1;OXSM gene and Dysmorphic features

PMID 27388694 2017 Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

PMID 12711318 2003 Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping.

PMID 11562482 2001 Identification of proteins that interact with mammalian peptide:N-glycanase and implicate this hydrolase in the proteasome-dependent pathway for protein degradation.

PMID 24651605 2014 Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

PMID 17088551 2006 Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

rs1556039406 in NHS gene and Dysmorphic features

PMID 19414485 2009 X-linked cataract and Nance-Horan syndrome are allelic disorders.

PMID 14564667 2003 Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

PMID 16736028 2006 New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

PMID 21559051 2011 The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

PMID 11836358 2002 A locus for isolated cataract on human Xp.

PMID 24968223 2014 Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

PMID 22229851 2012 Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

rs34927195 in NLGN3 gene and Dysmorphic features

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 15150161 2004 Disorder-associated mutations lead to functional inactivation of neuroligins.

PMID 24570023 2014 Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients.

PMID 12669065 2003 Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

rs768849266 in NMNAT2 gene and Dysmorphic features

PMID 21940452 2011 Cdk5-mediated phosphorylation of Axin directs axon formation during cerebral cortex development.

PMID 22842230 2012 Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

PMID 14516279 2004 Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas.

PMID 12359228 2002 Identification of a novel human nicotinamide mononucleotide adenylyltransferase.

PMID 16118205 2005 Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.

PMID 12574164 2003 Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis.

PMID 20943658 2010 Expression, localization, and biochemical characterization of nicotinamide mononucleotide adenylyltransferase 2.

PMID 21615689 2011 Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration.

PMID 24284888 2014 Axonal trafficking of NMNAT2 and its roles in axon growth and survival in vivo.

PMID 25560765 2015 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

PMID 28035283 2016 Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report.

PMID 24840802 2014 Wallerian degeneration: an emerging axon death pathway linking injury and disease.

PMID 23082226 2012 Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo.

rs1554728529 in NOTCH1 gene and Dysmorphic features

PMID 22245843 2012 Disruption of Notch1 induces vascular remodeling, intussusceptive angiogenesis, and angiosarcomas in livers of mice.

PMID 19610107 2009 The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

PMID 21457232 2012 Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.

PMID 18593716 2008 NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

PMID 16025100 2005 Mutations in NOTCH1 cause aortic valve disease.

PMID 10221902 1999 Notch signaling: cell fate control and signal integration in development.

PMID 19597493 2009 De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

PMID 17662764 2007 Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.

PMID 22318994 2012 Human gene copy number spectra analysis in congenital heart malformations.

PMID 23613382 2013 Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome.

PMID 23578328 2013 Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.

PMID 10946361 2000 Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.

PMID 16729972 2006 Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.

PMID 25914885 2019 Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.

PMID 25963545 2015 Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

PMID 24862819 2014 Severe phenotype in two half-sibs with Adams Oliver syndrome.

PMID 25132448 2014 Mutations in NOTCH1 cause Adams-Oliver syndrome.

PMID 28160419 2017 Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.

PMID 24273032 2014 Nodular regenerative hyperplasia in a patient with generalized essential telangiectasia: endotheliopathy as a causal factor.

rs1554672061 in NPR2 gene and Dysmorphic features

PMID 15146390 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

PMID 24259409 2014 Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.

PMID 25703509 2015 Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.

rs1555447237 in NR2F2 gene and Dysmorphic features

PMID 24702954 2014 Rare variants in NR2F2 cause congenital heart defects in humans.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 18798693 2008 Identification of COUP-TFII orphan nuclear receptor as a retinoic acid-activated receptor.

PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.

PMID 18371933 2008 Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

PMID 21172461 2011 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.

PMID 24702427 2015 Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

PMID 10215630 1999 The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development.

PMID 16251273 2005 Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.

PMID 15750894 2005 Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

rs1554189042 in NSD1 gene and Dysmorphic features

PMID 23592277 2013 The NSD1 and EZH2 overgrowth genes, similarities and differences.

PMID 23913520 2013 The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

PMID 11896389 2002 Haploinsufficiency of NSD1 causes Sotos syndrome.

PMID 12464997 2003 NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

PMID 17825104 2007 Sotos syndrome.

PMID 14571271 2003 Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

PMID 23599694 2013 Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

PMID 15942875 2005 Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

PMID 12807965 2003 Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

rs1026300967 in NTRK1 gene and Dysmorphic features

PMID 22302274 2012 Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

PMID 27676246 2017 A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).

PMID 28940190 2017 Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.

rs121918166 in OCA2 gene and Dysmorphic features

PMID 15712365 2005 P gene mutations associated with oculocutaneous albinism type II (OCA2).

PMID 26818737 2016 Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

PMID 15889046 2005 Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.

PMID 21085994 2011 High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.

PMID 12469324 2003 A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.

PMID 25093188 2014 Mutational analysis of oculocutaneous albinism: a compact review.

PMID 11310796 2001 The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.

PMID 10094567 1999 Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

PMID 21292473 2011 Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

PMID 8421497 1993 A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.

PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PMID 11464238 2001 The spectrum of Familial Mediterranean Fever (FMF) mutations.

rs794727804 in OPA1 gene and Dysmorphic features

PMID 28841713 2017 Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

PMID 22857269 2012 Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

PMID 26385429 2015 Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.

PMID 27656661 2016 A multiple sclerosis-like disorder in patients with OPA1 mutations.

PMID 26561570 2016 Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

PMID 20157015 2010 Multi-system neurological disease is common in patients with OPA1 mutations.

PMID 12566046 2003 A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

PMID 23387428 2013 Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

PMID 27150940 2016 Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

PMID 23384603 2013 Sensorineural hearing loss in OPA1-linked disorders.

PMID 14644237 2003 The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

PMID 16158427 2005 Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

PMID 14961560 2003 Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

rs140583554 in OSGEP gene and Dysmorphic features

PMID 28805828 2017 Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

PMID 28272532 2017 tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.

rs773157352 in OTX2 gene and Dysmorphic features

PMID 22577225 2012 OTX2 mutations contribute to the otocephaly-dysgnathia complex.

PMID 24167467 2013 Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

PMID 18728160 2008 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.

rs398123009 in PACS1 gene and Dysmorphic features

PMID 25522177 2015 Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.

PMID 28975623 2018 A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.

PMID 26842493 2016 Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

PMID 23159249 2012 Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

PMID 9695949 1998 PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization.

PMID 28111752 2017 Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.

rs797045865 in PAFAH1B1 gene and Dysmorphic features

PMID 12668601 2003 Lissencephaly and the molecular basis of neuronal migration.

PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 9063735 1997 Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.

PMID 9817918 1998 LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

PMID 24862549 2014 The genetics of lissencephaly.

PMID 28440899 2017 Lissencephaly: Expanded imaging and clinical classification.

rs1555985372 in PCDH19 gene and Dysmorphic features

PMID 19752159 2010 Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.

PMID 18234694 2008 Epilepsy and mental retardation limited to females: an under-recognized disorder.

PMID 21053371 2011 Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

PMID 21480887 2011 Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

PMID 21463275 2011 The genetics of Dravet syndrome.

PMID 21519002 2011 Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

PMID 18469813 2008 X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

PMID 20713952 2010 Protocadherin 19 mutations in girls with infantile-onset epilepsy.

PMID 22946748 2012 Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.

PMID 19214208 2009 Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

PMID 27016041 2016 PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.

PMID 22267240 2012 PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.

PMID 26765483 2016 PCDH19-related epilepsy in two mosaic male patients.

PMID 28669061 2017 Male patients affected by mosaic PCDH19 mutations: five new cases.

PMID 22050978 2012 PCDH19 mutation in Japanese females with epilepsy.

PMID 28462982 2017 Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.

rs1217566598 in PCNT gene and Dysmorphic features

PMID 22821869 2012 Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.

PMID 20358609 2010 Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.

PMID 21270239 2011 Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.

PMID 21567919 2011 The smallest teeth in the world are caused by mutations in the PCNT gene.

PMID 19839044 2009 Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

PMID 19643772 2010 Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

PMID 24106199 2014 Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.

rs1555934843 in PDHA1 gene and Dysmorphic features

PMID 23021068 2012 Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

PMID 27144126 2016 Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

PMID 25526709 2015 The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

PMID 7887408 1995 Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

PMID 26944031 2016 Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

PMID 27896109 2014 Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

PMID 26008863 2015 Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

PMID 21914562 2011 Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

PMID 10679936 2000 Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

PMID 15384102 2004 Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

rs267608247 in PEX6 gene and Dysmorphic features

PMID 26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

PMID 22871920 2012 Genetics and molecular basis of human peroxisome biogenesis disorders.

PMID 26593283 2016 PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

PMID 15098234 2004 Metabolic and molecular basis of peroxisomal disorders: a review.

PMID 11873320 2002 A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

PMID 15098231 2004 Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

PMID 8670792 1996 The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

PMID 17055079 2006 Peroxisome biogenesis disorders.

rs1556019107 in PHF6 gene and Dysmorphic features

PMID 13871358 1962 An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.

PMID 14756673 2004 The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

PMID 27633282 2016 Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.

PMID 24092917 2013 A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

PMID 27094817 2016 Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

PMID 12415272 2002 Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

rs1557099144 in PHF8 gene and Dysmorphic features

PMID 17661819 2007 Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

PMID 16199551 2005 Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

PMID 18498374 2008 Autism-associated familial microdeletion of Xp11.22.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 19843542 2010 PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.

PMID 20622853 2010 Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.

PMID 17594395 2007 A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.

rs1555639568 in PIEZO2 gene and Dysmorphic features

PMID 27912047 2016 Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

PMID 24726473 2014 Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

PMID 24649842 2014 Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature.

PMID 23487782 2013 Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.

PMID 27653382 2016 The Role of PIEZO2 in Human Mechanosensation.

PMID 19571066 2009 Arthrogryposis: a review and update.

PMID 27607563 2017 Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

PMID 17345626 2007 Pulmonary disease is a component of distal arthrogryposis type 5.

PMID 25712306 2015 A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.

rs1555682938 in PIGN gene and Dysmorphic features

PMID 27038415 2016 Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

PMID 26419326 2016 A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.

PMID 25920937 2015 The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

PMID 26879448 2016 Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

PMID 26394714 2016 Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

PMID 10574991 1999 Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol.

PMID 18635593 2008 Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress.

PMID 26364997 2016 A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.

PMID 21493957 2011 Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

PMID 24253414 2014 PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.

PMID 24852103 2014 Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

rs747661902 in PIGQ gene and Dysmorphic features

PMID 11418246 2001 The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis.

PMID 10373468 1999 GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis.

PMID 9463366 1998 The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PMID 9729469 1998 Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.

PMID 24852103 2014 Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

PMID 25851949 2015 PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels.

PMID 24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

PMID 22265715 2012 GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics.

rs1555447011 in PKD1;LOC105371049 gene and Dysmorphic features

PMID 23064367 2012 Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

PMID 19165178 2009 Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

PMID 18945943 2009 Unified criteria for ultrasonographic diagnosis of ADPKD.

PMID 20558538 2010 Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

PMID 17035604 2006 Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease.

PMID 26364947 2015 Autosomal dominant polycystic kidney disease.

PMID 11156533 2001 Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.

PMID 19346236 2009 Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks.

PMID 18215695 2008 Variation in age at ESRD in autosomal dominant polycystic kidney disease.

PMID 15677307 2005 Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease.

PMID 10411677 1999 Familial phenotype differences in PKD11.

PMID 11752048 2002 Management of cerebral aneurysms in autosomal dominant polycystic kidney disease.

PMID 12842373 2003 Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

rs797044902 in PKD1;MIR6511B1 gene and Dysmorphic features

PMID 20558538 2010 Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

PMID 18945943 2009 Unified criteria for ultrasonographic diagnosis of ADPKD.

PMID 19346236 2009 Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks.

PMID 19165178 2009 Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

PMID 23064367 2012 Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

PMID 26364947 2015 Autosomal dominant polycystic kidney disease.

PMID 11156533 2001 Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.

PMID 15677307 2005 Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease.

PMID 17035604 2006 Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease.

PMID 10411677 1999 Familial phenotype differences in PKD11.

PMID 18215695 2008 Variation in age at ESRD in autosomal dominant polycystic kidney disease.

PMID 12842373 2003 Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

PMID 11752048 2002 Management of cerebral aneurysms in autosomal dominant polycystic kidney disease.

rs761532715 in PKDCC gene and Dysmorphic features

PMID 23792766 2013 The hedgehog target Vlk genetically interacts with Gli3 to regulate chondrocyte differentiation during mouse long bone development.

PMID 19097194 2009 Short limbs, cleft palate, and delayed formation of flat proliferative chondrocytes in mice with targeted disruption of a putative protein kinase gene, Pkdcc (AW548124).

PMID 23559552 2013 A morpholino-based screen to identify novel genes involved in craniofacial morphogenesis.

PMID 19465597 2009 The novel protein kinase Vlk is essential for stromal function of mesenchymal cells.

PMID 25171405 2014 A secreted tyrosine kinase acts in the extracellular environment.

rs397514481 in PLCB4 gene and Dysmorphic features

PMID 18314001 2008 Question mark ears and post-auricular tags.

PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

PMID 16114046 2005 Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.

PMID 23315542 2013 Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

PMID 28328130 2017 Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

PMID 27007857 2016 Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

rs148032587 in PMM2 gene and Dysmorphic features

PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 26805780 2016 Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

PMID 26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

PMID 10854097 2000 Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

PMID 24498599 2013 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

PMID 11343337 2001 Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

PMID 28425223 2017 Three families with mild PMM2-CDG and normal cognitive development.

PMID 28373276 2017 Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

rs104894621 in PMP22 gene and Dysmorphic features

PMID 9543325 1998 Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.

PMID 26076881 2015 Molecular and clinical features of inherited neuropathies due to PMP22 duplication.

PMID 24534835 2014 Charcot-Marie-Tooth disease variants-classification, clinical, and genetic features and rational diagnostic evaluation.

PMID 7728152 1995 Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.

PMID 23781966 2013 Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.

PMID 8275092 1993 Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.

PMID 24668782 2014 Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.

PMID 9004143 1996 Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.

PMID 23224996 2013 The PMP22 gene and its related diseases.

PMID 24726093 2014 Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience.

PMID 11523566 2001 EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

PMID 24646194 2014 PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

PMID 1523566 1992 [The reflexotherapy of patients with respiratory allergoses].

PMID 10369870 1999 Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

PMID 18698610 2008 Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

PMID 12439896 2002 Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.

PMID 10211478 1999 Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.

PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PMID 18592125 2008 A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.

rs1554975332 in PNPLA2 gene and Dysmorphic features

PMID 25956450 2016 Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings.

PMID 24334715 2014 A novel type of human spontaneous coronary atherosclerosis with triglyceride deposition.

PMID 24332944 2014 Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy.

PMID 24836204 2014 A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review.

PMID 19038890 2008 Triglyceride deposit cardiomyovasculopathy.

PMID 21544567 2011 The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

rs1313319892 in POGZ gene and Dysmorphic features

PMID 9862965 1999 Pogo transposase contains a putative helix-turn-helix DNA binding domain that recognises a 12 bp sequence within the terminal inverted repeats.

PMID 24463507 2014 De novo mutations in schizophrenia implicate synaptic networks.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 25694107 2015 A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 23375656 2013 Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 27148570 2015 De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.

PMID 26739615 2016 POGZ truncating alleles cause syndromic intellectual disability.

PMID 26942287 2016 Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

PMID 28480548 2017 Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

rs1553426462 in POU3F3 gene and Dysmorphic features

PMID 16505001 2006 Positive association between POU1F1 and mental retardation in young females in the Chinese Han population.

PMID 17141158 2006 Proneural bHLH and Brn proteins coregulate a neurogenic program through cooperative binding to a conserved DNA motif.

PMID 1565620 1992 Structure and evolution of four POU domain genes expressed in mouse brain.

PMID 8543156 1995 Development and survival of the endocrine hypothalamus and posterior pituitary gland requires the neuronal POU domain factor Brn-2.

PMID 18261853 2008 Expression of Sox11 and Brn transcription factors during development and following transient forebrain ischemia in the rat.

PMID 11859196 2002 Transcriptional regulation of cortical neuron migration by POU domain factors.

PMID 10433239 1999 The Oct-2 POU domain gene in the neuroendocrine brain: a transcriptional regulator of mammalian puberty.

PMID 12925600 2003 Crucial roles of Brn1 in distal tubule formation and function in mouse kidney.

PMID 12130536 2002 Brn-1 and Brn-2 share crucial roles in the production and positioning of mouse neocortical neurons.

PMID 26833329 2016 Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

PMID 9632656 1998 Cooperative function of POU proteins and SOX proteins in glial cells.

PMID 2739723 1989 Expression of a large family of POU-domain regulatory genes in mammalian brain development.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 2044958 1991 POU-domain transcription factors: pou-er-ful developmental regulators.

PMID 8543155 1995 The POU domain transcription factor Brn-2 is required for the determination of specific neuronal lineages in the hypothalamus of the mouse.

PMID 24550763 2014 A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.

PMID 8156594 1994 Crystal structure of the Oct-1 POU domain bound to an octamer site: DNA recognition with tethered DNA-binding modules.

rs1555648564 in PPM1D gene and Dysmorphic features

PMID 28343630 2017 De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

PMID 26823519 2016 PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 24911145 2014 Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 26847329 2016 Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 23242139 2013 Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 18265945 2008 The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways.

PMID 22065775 2012 Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents.

rs863225080 in PPP2R5D;MEA1 gene and Dysmorphic features

PMID 26168268 2015 B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

PMID 8703017 1996 The B56 family of protein phosphatase 2A (PP2A) regulatory subunits encodes differentiation-induced phosphoproteins that target PP2A to both nucleus and cytoplasm.

PMID 25972378 2015 Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 26576547 2016 De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 20017541 2010 Molecular determinants for PP2A substrate specificity: charged residues mediate dephosphorylation of tyrosine hydroxylase by the PP2A/B' regulatory subunit.

rs606231193 in PQBP1 gene and Dysmorphic features

PMID 20950397 2011 The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.

PMID 16740914 2006 Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.

PMID 15782410 2005 Renpenning syndrome comes into focus.

PMID 13981686 1962 Familial sex-linked mental retardation.

PMID 15355434 2004 Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).

PMID 14634649 2003 Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.

rs1557084120 in PRAF2;WDR45 gene and Dysmorphic features

PMID 24847269 2014 Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.

PMID 25263061 2014 Early manifestations of BPAN in a pediatric patient.

PMID 26173968 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

PMID 28932395 2017 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.

PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

PMID 24621584 2014 De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

PMID 20562859 2010 Network organization of the human autophagy system.

rs137852540 in PRPS1 gene and Dysmorphic features

PMID 24285972 2013 Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

PMID 26089585 2015 Association of PRPS1 Mutations with Disease Phenotypes.

PMID 20021999 2010 Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

PMID 17701896 2007 Arts syndrome is caused by loss-of-function mutations in PRPS1.

PMID 20380929 2010 PRPS1 mutations: four distinct syndromes and potential treatment.

PMID 24528855 2014 X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

PMID 12847698 2003 Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.

PMID 25491489 2014 Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

PMID 15955956 2005 A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

PMID 8498830 1993 X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.

PMID 8968763 1996 Mapping of DFN2 to Xq22.

PMID 25785835 2015 Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

rs1554708787 in PTCH1 gene and Dysmorphic features

PMID 11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

PMID 12879481 2003 Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature.

PMID 9231911 1997 The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.

PMID 15545745 2005 Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

PMID 25403219 2014 Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

PMID 26604511 2015 Gorlin-Goltz Syndrome: Case report and literature review.

PMID 9096761 1997 Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.

PMID 24204797 2013 PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

PMID 26356331 2016 Basal cell nevus syndrome: clinical and molecular review and case report.

PMID 17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.

PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

PMID 8840969 1996 Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.

PMID 24529220 2014 Multiple spinal osteochondromata and osteosarcoma in a patient with Gorlin's syndrome.

rs1554898088 in PTEN gene and Dysmorphic features

PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

PMID 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.

PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.

PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.

PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.

PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

rs28933386 in PTPN11 gene and Dysmorphic features

PMID 9222968 1997 Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

PMID 4025385 1985 Noonan syndrome: the changing phenotype.

PMID 19467855 2009 The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

PMID 26297936 2015 Chronic pain in Noonan Syndrome: A previously unreported but common symptom.

PMID 1258892 1976 Multiple lentigines syndrome. Case report and review of the literature.

PMID 21533187 2011 Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

PMID 27619028 2016 Audiological findings in Noonan syndrome.

PMID 8530013 1995 Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3.

PMID 27521173 2016 Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

PMID 4386970 1968 Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.

PMID 26249544 2015 Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 21500339 2011 Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

PMID 17056636 2007 Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

PMID 17222357 2007 Noonan syndrome.

PMID 1543375 1992 A clinical study of Noonan syndrome.

rs797044884 in PTRH2;CLTC gene and Dysmorphic features

PMID 24234437 2014 ClinVar: public archive of relationships among sequence variation and human phenotype.

PMID 24870542 2014 A draft map of the human proteome.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 23911319 2013 Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 11955450 2002 Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release.

PMID 22511880 2012 Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 1063406 1976 Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 9147638 1997 Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 9671304 1998 Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins.

PMID 26822784 2016 CLTC as a clinically novel gene associated with multiple malformations and developmental delay.

PMID 8375651 1993 The Drosophila clathrin heavy chain gene: clathrin function is essential in a multicellular organism.

PMID 20206336 2010 Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

PMID 15217342 2004 The synaptic vesicle cycle.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 22831640 2012 Diversity of clathrin function: new tricks for an old protein.

PMID 18762582 2008 Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake.

PMID 16982422 2006 Clathrin-mediated endocytosis is the dominant mechanism of vesicle retrieval at hippocampal synapses.

PMID 15858577 2005 Clathrin is required for the function of the mitotic spindle.

PMID 16618797 2006 Requirement of clathrin heavy chain for p53-mediated transcription.

rs1554643473 in PUF60 gene and Dysmorphic features

PMID 10606266 1999 PUF60: a novel U2AF65-related splicing activity.

PMID 17579712 2007 Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65).

PMID 24140112 2013 SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

PMID 10668799 2000 Interaction cloning and characterization of RoBPI, a novel protein binding to human Ro ribonucleoproteins.

PMID 19464398 2009 An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.

PMID 27804958 2016 Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 28327570 2017 PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 28990276 2018 Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

rs1554129039 in PURA gene and Dysmorphic features

PMID 26582469 2015 Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

PMID 18266931 2008 Proteomic analysis of nuclear factors binding to an intronic enhancer in the myelin proteolipid protein gene.

PMID 27148565 2015 De novo mutations in PURA are associated with hypotonia and developmental delay.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 25342064 2014 Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

PMID 17698009 2007 Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

PMID 22711443 2012 Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

PMID 19182532 2009 Multiple roles for Puralpha in cellular and viral regulation.

PMID 1706516 1991 Dendritic location of neural BC1 RNA.

PMID 28486374 2017 Premature Thelarche and the PURA Syndrome.

PMID 25439098 2014 Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

PMID 23950017 2013 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.

PMID 29097605 2018 PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

PMID 29150892 2018 Expanding the neurodevelopmental phenotype of PURA syndrome.

PMID 21594995 2011 A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination.

PMID 12972605 2003 Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.

PMID 28164378 2017 Patient with a novel purine-rich element binding protein A mutation.

rs121918374 in PYCR1 gene and Dysmorphic features

PMID 22052856 2011 Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.

PMID 24035636 2013 Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

PMID 19576563 2009 Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

PMID 19648921 2009 Mutations in PYCR1 cause cutis laxa with progeroid features.

rs1282248700 in RAB3GAP1 gene and Dysmorphic features

PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

PMID 20512159 2010 New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

PMID 23176487 2012 RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

PMID 15696165 2005 Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

rs864622194 in RAB9B;PLP1 gene and Dysmorphic features

PMID 16778599 2006 Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.

PMID 2479017 1989 Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.

PMID 15627202 2005 PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.

PMID 9418954 1997 Redefining the lipophilin family of proteolipid proteins.

PMID 17568416 2007 Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations.

PMID 8520726 1995 Neuropathology and genetics of Pelizaeus-Merzbacher disease.

PMID 7541901 1995 The proteolipid protein gene.

PMID 27179222 2016 Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.

PMID 8780101 1996 Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.

PMID 11761472 2001 Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.

PMID 16130097 2005 Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.

PMID 11093273 2000 Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

rs1057519413 in RAD51 gene and Dysmorphic features

PMID 25813273 2015 Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations.

PMID 26253028 2015 A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination.

PMID 24808016 2014 Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.

rs80338796 in RAF1 gene and Dysmorphic features

PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 24777450 2014 RAF1 mutations in childhood-onset dilated cardiomyopathy.

PMID 23877478 2014 Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 26446362 2016 Recent advances in RASopathies.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 19437094 2009 Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 26903553 2016 Growth patterns of patients with Noonan syndrome: correlation with age and genotype.

PMID 20052757 2010 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

PMID 23613113 2013 A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.

PMID 22389993 2012 Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.

PMID 22826437 2012 Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.

rs1555565243 in RAI1 gene and Dysmorphic features

PMID 26891008 2016 OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

PMID 17041942 2006 RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

PMID 25781356 2015 Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

PMID 15565467 2004 Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

PMID 15788730 2005 RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

PMID 21897445 2012 Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

PMID 21857958 2011 Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

PMID 16845274 2006 Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

PMID 26544804 2015 Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

rs1555902810 in RBFOX2 gene and Dysmorphic features

PMID 16260614 2005 Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 25205790 2014 Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

PMID 27211866 2016 RBFox2 Binds Nascent RNA to Globally Regulate Polycomb Complex 2 Targeting in Mammalian Genomes.

PMID 27485310 2016 Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.

PMID 25753418 2015 Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure.

rs1556779417 in RBM10 gene and Dysmorphic features

PMID 24259342 2014 Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

PMID 24530524 2014 RBM10 regulates alternative splicing.

PMID 28577551 2017 Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.

PMID 21910224 2011 Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.

PMID 5410571 1970 Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect.

PMID 20451169 2010 Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.

rs137853229 in RECQL4 gene and Dysmorphic features

PMID 16681588 2006 An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis.

PMID 18716613 2009 The mutation spectrum in RECQL4 diseases.

PMID 18647888 2008 Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.

PMID 19291770 2009 A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

PMID 24635570 2015 Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

rs1554902811 in RECQL4;LRRC14 gene and Dysmorphic features

PMID 18716613 2009 The mutation spectrum in RECQL4 diseases.

PMID 24635570 2015 Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

PMID 16681588 2006 An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis.

PMID 19291770 2009 A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

PMID 18647888 2008 Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.

rs1554404013 in RELN gene and Dysmorphic features

PMID 10973257 2000 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.

PMID 16958033 2007 The role of RELN in lissencephaly and neuropsychiatric disease.

PMID 11748497 2001 Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.

PMID 17431900 2007 Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25621899 2015 Whole-genome sequencing of quartet families with autism spectrum disorder.

PMID 26046367 2015 Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.

PMID 17955477 2008 The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.

PMID 25648840 2015 RELN rare variants in myoclonus-dystonia.

rs869025195 in RIT1 gene and Dysmorphic features

PMID 25049390 2014 Next-generation sequencing identifies rare variants associated with Noonan syndrome.

PMID 27109146 2016 Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

PMID 25124994 2014 Further evidence of the importance of RIT1 in Noonan syndrome.

PMID 23791108 2013 Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

PMID 24939608 2014 Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

PMID 25959749 2016 Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

PMID 27101134 2016 Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

PMID 26714497 2016 Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

PMID 26757980 2016 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

rs1554340243 in RMND1 gene and Dysmorphic features

PMID 26395190 2016 Hearing impairment and renal failure associated with RMND1 mutations.

PMID 18835491 2008 Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 23022099 2012 Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

PMID 23022098 2012 An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.

PMID 26238252 2016 Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

PMID 27412952 2016 The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

PMID 25604853 2015 RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

rs886039763 in RPL36A-HNRNPH2;HNRNPH2 gene and Dysmorphic features

PMID 27545675 2016 Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

rs1555927554 in RPS6KA3 gene and Dysmorphic features

PMID 26043507 2015 A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 17100996 2006 Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

PMID 24311527 2014 Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

PMID 25044551 2014 The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

PMID 20637903 2011 Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

PMID 24859339 2014 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 11180593 2001 Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

PMID 15668050 2005 RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

PMID 12030896 2002 Cognitive function in Coffin-Lowry syndrome.

rs1248355799 in RYR1 gene and Dysmorphic features

PMID 9199552 1997 Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

PMID 8661021 1996 The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.

PMID 23394784 2013 Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

PMID 23553484 2013 Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.

PMID 4149045 1973 Anesthetic-induced malignant hyperpyrexia in children.

PMID 23919265 2013 Genotype-phenotype correlations in recessive RYR1-related myopathies.

PMID 20839240 2010 RYR1 mutations are a common cause of congenital myopathies with central nuclei.

PMID 16163667 2005 Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

PMID 18765655 2008 King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.

PMID 16917943 2006 Mutations in RYR1 in malignant hyperthermia and central core disease.

PMID 16380615 2005 Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

PMID 20583297 2010 Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

rs1057516689 in SACS gene and Dysmorphic features

PMID 8472930 1993 Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.

PMID 26288984 2015 New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 27871429 2016 Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

PMID 10655055 2000 ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.

PMID 18465152 2008 ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

PMID 11788093 2001 Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 23280630 2013 Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

PMID 19208651 2009 The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.

PMID 20876471 2010 Mutations in SACS cause atypical and late-onset forms of ARSACS.

PMID 17846221 2007 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.

PMID 15985586 2005 A phenotype without spasticity in sacsin-related ataxia.

PMID 25401298 2015 A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

PMID 17683082 2008 Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.

PMID 23497566 2013 Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

PMID 16961075 2006 Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 12873855 2003 Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.

PMID 21450511 2011 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.

PMID 14718708 2004 Identification of a SACS gene missense mutation in ARSACS.

PMID 22751902 2012 Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.

PMID 22441213 2012 Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.

PMID 16007637 2005 Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.

rs1193888919 in SASS6 gene and Dysmorphic features

PMID 24951542 2014 A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

PMID 21273447 2011 Structures of SAS-6 suggest its organization in centrioles.

PMID 21277013 2011 Structural basis of the 9-fold symmetry of centrioles.

PMID 25548773 2014 Molecular and cellular basis of autosomal recessive primary microcephaly.

rs1057518496 in SATB2 gene and Dysmorphic features

PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 2918541 1989 Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

PMID 27409069 2016 Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.

PMID 24363063 2014 Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.

PMID 28151491 2017 Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 25885067 2015 Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.

PMID 27668656 2016 TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.

PMID 25106414 2014 The clinical significance of small copy number variants in neurodevelopmental disorders.

PMID 24301056 2014 Further delineation of the SATB2 phenotype.

PMID 23925499 2013 Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

PMID 19668335 2009 Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

PMID 16751105 2006 SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.

PMID 17377962 2007 Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 16960803 2006 Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.

PMID 19576302 2010 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.

PMID 28170089 2017 DEPDC5 mutations in familial and sporadic focal epilepsy.

PMID 12915443 2003 Identification of SATB2 as the cleft palate gene on 2q32-q33.

PMID 10417281 1999 A locus for isolated cleft palate, located on human chromosome 2q32.

PMID 28211976 2017 A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.

rs1553549717 in SCN1A;SCN1A-AS1 gene and Dysmorphic features

PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

PMID 9126059 1997 Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.

PMID 24097157 2014 Structure and function of voltage-gated sodium channels at atomic resolution.

PMID 24836964 2014 Dravet syndrome--from epileptic encephalopathy to channelopathy.

PMID 22719002 2012 Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.

PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 20879882 2010 Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

PMID 18413471 2008 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

PMID 17561957 2007 Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

PMID 19400878 2009 SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

PMID 21269283 2011 Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.

PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.

PMID 16430863 2006 Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.

PMID 21463290 2011 Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief.

PMID 22409937 2012 Progressive gait deterioration in adolescents with Dravet syndrome.

PMID 15880351 2005 SCN1A mutations and epilepsy.

PMID 15508915 2005 Severe myoclonic epilepsy in infancy: Dravet syndrome.

PMID 11359211 2001 De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

PMID 10742094 2000 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

rs1553583712 in SCN2A gene and Dysmorphic features

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 26645390 2016 Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23827426 2013 SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism.

PMID 23935176 2013 Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

PMID 20346423 2010 Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 15249644 2004 Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A.

PMID 28256214 2017 Opposing Effects on Na_V1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.

PMID 1658783 1991 Brain and heart sodium channel subtype mRNA expression in rat cerebral cortex.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 18809926 2008 Disulfide locking a sodium channel voltage sensor reveals ion pair formation during activation.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 22029951 2012 Clinical spectrum of SCN2A mutations.

PMID 20351042 2010 Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.

PMID 20006674 2010 Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain.

PMID 28379373 2017 Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

PMID 26291284 2015 SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 19786696 2009 De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.

PMID 18479388 2008 Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.

PMID 17467289 2007 A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.

PMID 1325650 1992 Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.

PMID 15048894 2004 Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

PMID 17386050 2007 SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.

PMID 15101391 2004 Evolutionary convergence of alternative splicing in ion channels.

PMID 11245985 2001 Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus.

PMID 25163687 2014 Genotype phenotype associations across the voltage-gated sodium channel family.

PMID 24579881 2014 Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

PMID 1658739 1991 Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs.

PMID 10198179 1999 Evolution and diversity of mammalian sodium channel genes.

rs1555226081 in SCN8A gene and Dysmorphic features

PMID 26677014 2016 Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

PMID 26252990 2016 Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.

PMID 26220391 2015 Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.

PMID 7751906 1995 A novel, abundant sodium channel expressed in neurons and glia.

PMID 9295353 1997 Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells.

PMID 26900580 2016 Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

PMID 24352161 2014 De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

PMID 28702509 2017 Loss-of-function variants of SCN8A in intellectual disability without seizures.

PMID 24888894 2014 Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

PMID 25239001 2014 Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.

PMID 25785782 2015 SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

PMID 25725044 2015 De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.

PMID 25799905 2015 Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 10745221 2000 Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system.

PMID 9828131 1998 Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A.

PMID 27270488 2016 SCN8A encephalopathy: Research progress and prospects.

PMID 24874546 2014 A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 26029160 2015 Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

PMID 22365152 2012 De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

PMID 25914188 2015 Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

PMID 16236810 2006 Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

rs1555706391 in SETBP1 gene and Dysmorphic features

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 25663181 2015 Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

PMID 28346496 2017 Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

PMID 23832012 2013 Somatic SETBP1 mutations in myeloid malignancies.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 21037274 2011 Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.

PMID 18398855 2008 Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.

PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.

PMID 20436468 2010 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

PMID 25028416 2015 West syndrome in a patient with Schinzel-Giedion syndrome.

rs1555488653 in SETD1A gene and Dysmorphic features

PMID 26974950 2016 Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

PMID 16921172 2006 Protein interactions within the Set1 complex and their roles in the regulation of histone 3 lysine 4 methylation.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 24853937 2014 Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene.

PMID 24550110 2014 The H3K4 methyltransferase Setd1a is first required at the epiblast stage, whereas Setd1b becomes essential after gastrulation.

PMID 19700006 2009 Schizophrenia.

rs1553699115 in SETD2 gene and Dysmorphic features

PMID 24852293 2014 Mutations in SETD2 cause a novel overgrowth condition.

PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 27317772 2016 SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.

PMID 25574603 2015 Whole exome sequencing in females with autism implicates novel and candidate genes.

PMID 28424246 2017 Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2.

PMID 26084711 2015 Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.

rs797044953 in SETD5 gene and Dysmorphic features

PMID 24680889 2014 De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

PMID 23613140 2013 Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 7477409 1995 Altered Hox expression and segmental identity in Mll-mutant mice.

PMID 28881385 2018 Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

PMID 22986149 2013 Like a rolling histone: epigenetic regulation of neural stem cells and brain development by factors controlling histone acetylation and methylation.

PMID 27375234 2016 SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.

PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

PMID 27334371 2016 Mutations in HECW2 are associated with intellectual disability and epilepsy.

PMID 28866611 2018 Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 21082655 2010 Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1.

PMID 16086857 2005 The SET-domain protein superfamily: protein lysine methyltransferases.

PMID 19760623 2009 Microarray based analysis of 3p25-p26 deletions (3p- syndrome).

PMID 17100993 2006 Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.

PMID 15774718 2005 Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9.

PMID 22965684 2012 Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.

PMID 16919862 2007 The control of histone lysine methylation in epigenetic regulation.

PMID 14681479 2004 GenePaint.org: an atlas of gene expression patterns in the mouse embryo.

PMID 12540855 2003 Structure and catalytic mechanism of the human histone methyltransferase SET7/9.

PMID 12130538 2002 G9a histone methyltransferase plays a dominant role in euchromatic histone H3 lysine 9 methylation and is essential for early embryogenesis.

PMID 12805229 2003 NSD1 is essential for early post-implantation development and has a catalytically active SET domain.

PMID 17151600 2007 Genome-wide atlas of gene expression in the adult mouse brain.

PMID 17013555 2006 SET domain protein lysine methyltransferases: Structure, specificity and catalysis.

PMID 10699187 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

PMID 11390661 2001 The polycomb-group gene Ezh2 is required for early mouse development.

rs387907186 in SF3B4 gene and Dysmorphic features

PMID 24715698 2014 Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?

PMID 24003905 2014 Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

PMID 23568615 2013 Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.

PMID 27642715 2016 Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

PMID 22541558 2012 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

PMID 18000904 2007 Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.

rs104894635 in SGSH gene and Dysmorphic features

PMID 21671382 2011 Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.

PMID 21061399 2010 Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

PMID 17938166 2007 Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).

PMID 12687673 2003 Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.

PMID 23385295 2013 Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders.

PMID 27896117 2014 Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report.

PMID 25851924 2015 Sanfilippo syndrome: Overall review.

PMID 28921412 2018 How close are we to therapies for Sanfilippo disease?

rs1555100954 in SHANK2 gene and Dysmorphic features

PMID 27001614 2016 Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

PMID 25188300 2014 Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PMID 22346768 2012 Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25106414 2014 The clinical significance of small copy number variants in neurodevelopmental disorders.

PMID 27903723 2016 Cerebellar Shank2 Regulates Excitatory Synapse Density, Motor Coordination, and Specific Repetitive and Anxiety-Like Behaviors.

PMID 20473310 2010 Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

PMID 21994763 2012 Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.

PMID 28326932 2017 A critical role of spinal Shank2 proteins in NMDA-induced pain hypersensitivity.

PMID 25560758 2015 Identification and functional characterization of rare SHANK2 variants in schizophrenia.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 22699620 2012 Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function.

rs267607048 in SHOC2 gene and Dysmorphic features

PMID 25137548 2014 A Novel SHOC2 Variant in Rasopathy.

PMID 25331583 2014 Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.

PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

PMID 23918763 2013 Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

PMID 25846317 2015 Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.

PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

PMID 21548061 2011 Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

rs1555444885 in SIN3A gene and Dysmorphic features

PMID 22180641 2012 Further clinical and molecular delineation of the 15q24 microdeletion syndrome.

PMID 9620804 1998 Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex.

PMID 27399968 2016 Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

PMID 10801981 2000 The O-GlcNAc transferase gene resides on the X chromosome and is essential for embryonic stem cell viability and mouse ontogeny.

PMID 15998811 2005 mSin3A corepressor regulates diverse transcriptional networks governing normal and neoplastic growth and survival.

PMID 10734093 2000 The co-repressor mSin3A is a functional component of the REST-CoREST repressor complex.

PMID 12150998 2002 Recruitment of O-GlcNAc transferase to promoters by corepressor mSin3A: coupling protein O-GlcNAcylation to transcriptional repression.

PMID 10022921 1999 A new member of the Sin3 family of corepressors is essential for cell viability and required for retroelement propagation in fission yeast.

PMID 16055712 2005 The mSin3A chromatin-modifying complex is essential for embryogenesis and T-cell development.

PMID 24189169 2014 Sin3: insight into its transcription regulatory functions.

PMID 19505602 2009 Sin3: master scaffold and transcriptional corepressor.

PMID 25527279 2015 Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability.

PMID 9799435 1998 The Drosophila Sin3 gene encodes a widely distributed transcription factor essential for embryonic viability.

rs387907306 in SKI gene and Dysmorphic features

PMID 24736733 2015 The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

PMID 15884042 2005 Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

PMID 23023332 2012 Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

PMID 23103230 2012 In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

PMID 27146836 2016 Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

rs587784384 in SLC16A2 gene and Dysmorphic features

PMID 15889350 2005 Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

PMID 23550058 2013 Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.

PMID 12871948 2003 Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.

PMID 22805248 2013 MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

PMID 21098685 2011 Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.

PMID 18398436 2008 MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

PMID 14661163 2004 A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

PMID 2393019 1990 Allan-Herndon syndrome. I. Clinical studies.

PMID 21896621 2011 A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment.

PMID 20628049 2010 Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.

PMID 27672545 2016 Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

PMID 24629861 2014 Inherited defects in thyroid hormone cell-membrane transport and metabolism.

PMID 24665922 2014 Genetic disorders of thyroid metabolism and brain development.

rs886041081 in SLC25A4 gene and Dysmorphic features

PMID 27693233 2016 Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

rs1553156053 in SLC2A1 gene and Dysmorphic features

PMID 21832227 2011 Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

PMID 19798636 2009 Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

PMID 26304067 2015 Mutational and functional analysis of Glucose transporter I deficiency syndrome.

PMID 23280796 2012 Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

PMID 26598494 2015 The clinical and genetic heterogeneity of paroxysmal dyskinesias.

PMID 26193382 2015 From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

PMID 26537434 2015 The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

PMID 21791420 2011 Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.

PMID 22492876 2012 An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.

PMID 26336901 2016 Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour.

PMID 24963779 2014 Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.

PMID 23306390 2013 The role of SLC2A1 in early onset and childhood absence epilepsies.

PMID 20129935 2010 Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

PMID 10766892 2000 A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study.

PMID 20221955 2009 Autosomal recessive inheritance of GLUT1 deficiency syndrome.

PMID 12752470 2003 Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.

PMID 18577546 2008 Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

PMID 20687207 2010 Glut1 deficiency: inheritance pattern determined by haploinsufficiency.

PMID 1714544 1991 Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.

PMID 23443458 2013 Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

rs1557042808 in SLC35A2 gene and Dysmorphic features

PMID 25778940 2015 A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

PMID 25877686 2015 Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

PMID 24115232 2013 De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 8889805 1996 Human UDP-galactose translocator: molecular cloning of a complementary DNA that complements the genetic defect of a mutant cell line deficient in UDP-galactose translocator.

PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.

PMID 23561849 2013 Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

PMID 9010752 1996 Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family.

PMID 26350515 2016 Novel genetic causes for cerebral visual impairment.

rs148234606 in SLC52A2 gene and Dysmorphic features

PMID 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

PMID 24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

PMID 27702554 2016 SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.

rs1167512470 in SLC52A3 gene and Dysmorphic features

PMID 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

PMID 22824638 2012 Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

PMID 26976849 2016 SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.

PMID 22740598 2012 Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

PMID 25462087 2015 Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report.

rs1553690452 in SLC6A1 gene and Dysmorphic features

PMID 26716362 2016 Mosaic mutations in early-onset genetic diseases.

PMID 9623887 1998 Neuronal and glial localization of GAT-1, a high-affinity gamma-aminobutyric acid plasma membrane transporter, in human cerebral cortex: with a note on its distribution in monkey cortex.

PMID 25865495 2015 Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.

PMID 12451126 2002 Number, density, and surface/cytoplasmic distribution of GABA transporters at presynaptic structures of knock-in mice carrying GABA transporter subtype 1-green fluorescent protein fusions.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

rs80338739 in SLC6A8 gene and Dysmorphic features

PMID 15234334 2004 Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

PMID 27081545 2015 A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.

PMID 20846889 2010 Treatment of intractable epilepsy in a female with SLC6A8 deficiency.

PMID 24137762 2010 The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.

PMID 16738945 2006 X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

PMID 10893433 2000 Creatine and creatinine metabolism.

PMID 15154114 2004 High prevalence of SLC6A8 deficiency in X-linked mental retardation.

PMID 28065824 2017 Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.

PMID 20528887 2011 Clinical features and X-inactivation in females heterozygous for creatine transporter defect.

PMID 24190795 2014 A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.

PMID 23644449 2013 Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

rs397518413 in SMAD4 gene and Dysmorphic features

PMID 24398790 2014 SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

PMID 26420300 2015 Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

PMID 24424121 2014 Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

PMID 22585601 2012 Mutations of SMAD4 account for both LAPS and Myhre syndromes.

PMID 22243968 2012 A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 24715504 2014 Novel SMAD4 mutation causing Myhre syndrome.

PMID 27562837 2016 Natural history and life-threatening complications in Myhre syndrome and review of the literature.

PMID 22846733 2013 Genetic testing by cancer site: colon (polyposis syndromes).

PMID 22158539 2011 Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

PMID 15031030 2004 A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

PMID 16613914 2006 SMAD4 mutations found in unselected HHT patients.

PMID 17873119 2007 High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

rs1554629007 in SMARCA2 gene and Dysmorphic features

PMID 25169058 2014 Phenotype and genotype in Nicolaides-Baraitser syndrome.

PMID 8287185 1993 An unusual syndrome with mental retardation and sparse hair.

PMID 25249037 2015 Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

PMID 22366787 2012 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

PMID 19606471 2009 Nicolaides-Baraitser syndrome: Delineation of the phenotype.

PMID 14564210 2003 Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.

rs1556886034 in SMC1A gene and Dysmorphic features

PMID 26752331 2016 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

PMID 7757074 1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

PMID 26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

PMID 26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

PMID 28102598 2017 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

PMID 26354354 2015 Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 22106055 2012 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 25537356 2015 Clinical utility gene card for: Cornelia de Lange syndrome.

PMID 23106691 2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

PMID 19842212 2010 Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PMID 28548707 2017 Phenotypes and genotypes in individuals with SMC1A variants.

rs774152851 in SNORD9;CHD8 gene and Dysmorphic features

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 22083958 2012 Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

PMID 23835524 2013 CHD8 is an independent prognostic indicator that regulates Wnt/β-catenin signaling and the cell cycle in gastric cancer.

PMID 21447119 2011 Genetic and expressional alterations of CHD genes in gastric and colorectal cancers.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 18378692 2008 CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

rs1382415023 in SON gene and Dysmorphic features

PMID 9185665 1997 Molecular cloning of Fyn-associated molecules in the mouse central nervous system.

PMID 3054499 1988 [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins].

PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

PMID 27545680 2016 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

PMID 25782155 2015 Accurate splicing of HDAC6 pre-mRNA requires SON.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 24013217 2013 SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 21504830 2011 SON controls cell-cycle progression by coordinated regulation of RNA splicing.

PMID 22948023 2013 Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

PMID 12606581 2003 HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo.

PMID 23001566 2012 An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 16033648 2005 A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain.

PMID 23416452 2013 mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.

PMID 10950926 2000 Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes.

PMID 22193954 2011 Son maintains accurate splicing for a subset of human pre-mRNAs.

PMID 10509013 1999 A selection system for human apoptosis inhibitors using yeast.

PMID 20053686 2010 Son is essential for nuclear speckle organization and cell cycle progression.

PMID 19961433 2010 Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin.

PMID 1944255 1991 [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells].

PMID 11306577 2001 Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON.

PMID 20581448 2010 SON is a spliceosome-associated factor required for mitotic progression.

rs137852813 in SOS1 gene and Dysmorphic features

PMID 26708403 2016 SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

PMID 25180280 2014 Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

PMID 22551697 2012 Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway?

PMID 19438935 2009 SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 17586837 2007 SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

PMID 21387466 2011 SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 23165751 2012 Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome.

PMID 19077116 2009 Genotype differences in cognitive functioning in Noonan syndrome.

PMID 25073238 2014 Unilateral giant cell lesion of the jaw in Noonan syndrome.

PMID 19467855 2009 The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

PMID 11868160 2002 A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.

PMID 26249544 2015 Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

PMID 17143282 2007 Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

PMID 19020799 2008 PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

PMID 18651097 2008 Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

PMID 16773572 2006 Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

PMID 17143285 2007 Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

PMID 17510059 2007 Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis.

rs1425166755 in SOX9;SOX9-AS1 gene and Dysmorphic features

PMID 28965976 2018 The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.

PMID 7666392 1995 A clinical and genetic study of campomelic dysplasia.

PMID 15754354 2005 Differentiating campomelic dysplasia from Cumming syndrome.

PMID 9452059 1998 Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.

PMID 19921652 2009 Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.

PMID 25983619 2015 Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.

PMID 12161603 2002 The phenotype of survivors of campomelic dysplasia.

PMID 9066880 1997 Acampomelic campomelic dysplasia: further radiographic variations.

PMID 7485151 1995 Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

PMID 10951468 2000 Acampomelic campomelic dysplasia with SOX9 mutation.

PMID 17352389 2007 Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.

rs775736341 in SPART gene and Dysmorphic features

PMID 20437587 2010 Developmental and degenerative features in a complicated spastic paraplegia.

PMID 15372254 2004 Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.

PMID 19307600 2009 A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover.

PMID 26003402 2015 Recurrent null mutation in SPG20 leads to Troyer syndrome.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PMID 18997780 2008 Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B.

PMID 6022528 1967 The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting.

PMID 12134148 2002 SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

PMID 24523286 2014 The role of spartin and its novel ubiquitin binding region in DALIS occurrence.

PMID 20719964 2010 SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis.

rs1553317028 in SPAST gene and Dysmorphic features

PMID 26094131 2015 Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

PMID 26374131 2016 Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

PMID 23122959 2012 Normal spastin gene dosage is specifically required for axon regeneration.

PMID 26208798 2015 Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.

PMID 26671083 2015 Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

PMID 25065914 2014 The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

PMID 10610178 1999 Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

PMID 24478365 2014 Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.

PMID 11309678 2001 Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

PMID 23438842 2014 Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 10699187 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

PMID 25315759 2014 A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.

PMID 22554690 2012 Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

PMID 15326248 2004 Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene.

PMID 19453301 2009 Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients.

PMID 17100993 2006 Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.

PMID 17101632 2006 A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

PMID 18190593 2008 Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.

PMID 14681884 2003 Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.

PMID 20562464 2010 Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.

rs1555537637 in SPNS2 gene and Dysmorphic features

PMID 19074308 2009 The sphingolipid transporter spns2 functions in migration of zebrafish myocardial precursors.

PMID 25356849 2014 Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

rs1555392032 in SPRED1 gene and Dysmorphic features

PMID 20179001 2010 SPRED 1 mutations in a neurofibromatosis clinic.

PMID 20339110 2010 Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)?

PMID 21495177 2011 Observations on intelligence and behavior in 15 patients with Legius syndrome.

PMID 3128965 1988 Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

PMID 21548021 2011 Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

PMID 19920235 2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

PMID 21089071 2011 Legius syndrome in fourteen families.

PMID 19366998 2009 SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

PMID 19443465 2009 SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

PMID 21649642 2011 Identification of five novel SPRED1 germline mutations in Legius syndrome.

PMID 22753041 2012 Review and update of SPRED1 mutations causing Legius syndrome.

PMID 11493923 2001 Spred is a Sprouty-related suppressor of Ras signalling.

PMID 24334617 2013 Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

PMID 17704776 2007 Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

rs1555815437 in SPTBN4 gene and Dysmorphic features

PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

PMID 23236289 2012 Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

PMID 11404407 2001 Drosophila alpha- and beta-spectrin mutations disrupt presynaptic neurotransmitter release.

PMID 10997877 2000 Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PMID 10811832 2000 Mutations in beta-spectrin disrupt axon outgrowth and sarcomere structure.

PMID 28940097 2017 Expanding the genetic heterogeneity of intellectual disability.

PMID 11528393 2001 Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice.

PMID 11807096 2002 [Beta]IV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier.

PMID 23838597 2014 Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

PMID 20493457 2010 Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.

PMID 16429157 2006 Spectrin mutations cause spinocerebellar ataxia type 5.

PMID 23673272 2014 Spectrins: a structural platform for stabilization and activation of membrane channels, receptors and transporters.

PMID 22843192 2013 A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat.

PMID 11086001 2000 betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous system.

rs1555465942 in SRCAP gene and Dysmorphic features

PMID 23621943 2013 The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

PMID 23708140 2013 Exome sequencing to identify de novo mutations in sporadic ALS trios.

PMID 23763483 2014 Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.

PMID 22965468 2013 Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

PMID 26788936 2016 Stippled calcification in an infant with a recurrent SRCAP gene mutation.

PMID 24970356 2014 Whole exome sequencing to identify genetic causes of short stature.

PMID 25433523 2014 Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

PMID 22265015 2012 Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

rs765191836 in SRD5A3-AS1;SRD5A3 gene and Dysmorphic features

PMID 28253385 2017 Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

PMID 24433453 2014 Adult phenotype and further phenotypic variability in SRD5A3-CDG.

PMID 20700148 2011 Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.

PMID 20852264 2010 A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

PMID 27480077 2016 SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.

PMID 26219881 2016 Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.

PMID 20637498 2010 SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

rs1376334317 in STAG1 gene and Dysmorphic features

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 28119487 2017 STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

rs782061187 in SURF1 gene and Dysmorphic features

PMID 26762927 2016 Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

PMID 26443249 2015 Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

PMID 16225813 2005 Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

PMID 19780766 2009 SURF1 missense mutations promote a mild Leigh phenotype.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.

rs1554768709 in SURF2;SURF1 gene and Dysmorphic features

PMID 16225813 2005 Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

PMID 26443249 2015 Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.

PMID 19780766 2009 SURF1 missense mutations promote a mild Leigh phenotype.

PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

PMID 26762927 2016 Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

rs1131692154 in SYNGAP1 gene and Dysmorphic features

PMID 26079862 2015 De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 28576131 2017 Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 27827368 2016 Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.

PMID 26989088 2016 Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23161826 2013 Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 20531469 2010 Functional impact of global rare copy number variation in autism spectrum disorders.

PMID 23141534 2012 Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.

PMID 15312654 2004 SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation.

PMID 19196676 2009 Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

PMID 21237447 2011 De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

rs1555226395 in SYT1 gene and Dysmorphic features

PMID 26030874 2015 Dynamic binding mode of a Synaptotagmin-1-SNARE complex in solution.

PMID 11668675 2001 Drosophila synaptotagmin I null mutants survive to early adulthood.

PMID 12110842 2002 The C(2)B Ca(2+)-binding motif of synaptotagmin is required for synaptic transmission in vivo.

PMID 23283333 2013 Genetic analysis of synaptotagmin C2 domain specificity in regulating spontaneous and evoked neurotransmitter release.

PMID 24183019 2013 Neurotransmitter release: the last millisecond in the life of a synaptic vesicle.

PMID 25698934 2015 Bruchpilot and Synaptotagmin collaborate to drive rapid glutamate release and active zone differentiation.

PMID 15492212 2004 Kinetic efficiency of endocytosis at mammalian CNS synapses requires synaptotagmin I.

PMID 18275379 2008 How does synaptotagmin trigger neurotransmitter release?

PMID 27476655 2016 ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

PMID 21307261 2011 Membrane penetration by synaptotagmin is required for coupling calcium binding to vesicle fusion in vivo.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 19926819 2010 Cyclic AMP-mediated endocytosis of intestinal epithelial NHE3 requires binding to synaptotagmin 1.

PMID 7954835 1994 Synaptotagmin I: a major Ca2+ sensor for transmitter release at a central synapse.

PMID 15456828 2004 Dual roles of the C2B domain of synaptotagmin I in synchronizing Ca2+-dependent neurotransmitter release.

PMID 7477324 1995 Defective recycling of synaptic vesicles in synaptotagmin mutants of Caenorhabditis elegans.

PMID 25775572 2015 Transmembrane tethering of synaptotagmin to synaptic vesicles controls multiple modes of neurotransmitter release.

PMID 25705886 2015 Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

PMID 14715137 2004 N-glycosylation is essential for vesicular targeting of synaptotagmin 1.

rs1283368278 in TBCE gene and Dysmorphic features

PMID 12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

PMID 15645691 2004 Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.

PMID 27666369 2016 TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

PMID 2001103 1991 A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

PMID 9475091 1998 Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

PMID 7538982 1995 The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

rs746593718 in TBCE;B3GALNT2 gene and Dysmorphic features

PMID 9475091 1998 Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

PMID 27666369 2016 TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

PMID 12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

PMID 7538982 1995 The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

PMID 15645691 2004 Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.

PMID 2001103 1991 A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

rs1553810244 in TBL1XR1 gene and Dysmorphic features

PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

PMID 26769062 2016 A specific mutation in TBL1XR1 causes Pierpont syndrome.

PMID 25102098 2014 A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

PMID 26740553 2016 Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.

PMID 28687524 2017 Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

PMID 28588275 2017 De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.

PMID 25425123 2015 A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.

PMID 28562391 2017 Pierpont syndrome: report of a new patient.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 24891185 2014 De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

rs1555896474 in TBX1 gene and Dysmorphic features

PMID 27617111 2015 22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.

PMID 11748311 2001 Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects.

PMID 1349199 1992 A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

PMID 23996541 2013 Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.

PMID 26056486 2015 22q11 deletion syndrome: current perspective.

PMID 17273972 2007 Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

PMID 26884814 2016 Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray.

PMID 24998776 2014 Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.

PMID 25569435 2015 Practical guidelines for managing adults with 22q11.2 deletion syndrome.

PMID 18636631 2008 Velo-cardio-facial syndrome: 30 Years of study.

rs1555923822 in TCF20 gene and Dysmorphic features

PMID 25228304 2014 De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 27436265 2016 De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.

PMID 18351660 2008 Discovery of transcription factors and other candidate regulators of neural crest development.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 17151600 2007 Genome-wide atlas of gene expression in the adult mouse brain.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

rs1057521070 in TCF4 gene and Dysmorphic features

PMID 21671391 2011 The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

PMID 26087656 2015 Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.

PMID 27072915 2016 Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.

PMID 22045651 2012 Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.

PMID 22678594 2012 Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 22335494 2013 Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.

PMID 23185296 2012 A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.

PMID 22460224 2012 Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.

PMID 22712893 2012 Development, cognition, and behaviour in Pitt-Hopkins syndrome.

PMID 28807867 2017 Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

PMID 18728071 2008 Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

PMID 17436255 2007 Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

PMID 21533127 2011 Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.

PMID 17478476 2007 Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

PMID 21245398 2011 Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.

PMID 18081026 2008 A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.

PMID 19235238 2009 Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

PMID 20825314 2010 E2-2 protein and Fuchs's corneal dystrophy.

PMID 19938247 2009 Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.

PMID 18627065 2008 Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.

PMID 17436254 2007 Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Dysmorphic features

PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

PMID 7747785 1995 Further delineation of the branchio-oculo-facial syndrome.

PMID 23578821 2013 Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.

PMID 21204207 2011 Genotype-phenotype analysis of the branchio-oculo-facial syndrome.

PMID 20358615 2010 Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

PMID 19764023 2009 Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

rs151344530 in TFAP2A;TFAP2A-AS2 gene and Dysmorphic features

PMID 23578821 2013 Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.

PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

PMID 7747785 1995 Further delineation of the branchio-oculo-facial syndrome.

PMID 21204207 2011 Genotype-phenotype analysis of the branchio-oculo-facial syndrome.

PMID 19764023 2009 Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

PMID 20358615 2010 Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

rs1553630221 in TGFBR2 gene and Dysmorphic features

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 26724507 2016 A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease.

PMID 24793577 2014 The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).

PMID 21593863 2011 Lessons on the pathogenesis of aneurysm from heritable conditions.

PMID 21098638 2010 Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

rs1555545033 in THRA gene and Dysmorphic features

PMID 26037512 2015 A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.

PMID 27144938 2016 Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.

PMID 25670821 2015 Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

PMID 24969835 2014 Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

PMID 23633213 2013 Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.

PMID 23940126 2013 An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.

PMID 22168587 2012 A mutation in the thyroid hormone receptor alpha gene.

PMID 22494134 2012 Clinical phenotype and mutant TRα1.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

rs1555661506 in TLK2 gene and Dysmorphic features

PMID 23869254 2012 The Tousled-Like Kinases as Guardians of Genome Integrity.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 25849321 2016 Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 23911319 2013 Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

PMID 10523312 1999 Mammalian homologues of the plant Tousled gene code for cell-cycle-regulated kinases with maximal activities linked to ongoing DNA replication.

rs1247427997 in TMCO1 gene and Dysmorphic features

PMID 24194475 2014 TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

PMID 20018682 2010 Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

PMID 24424126 2014 Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

PMID 23320496 2013 Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

rs201108965 in TMEM216 gene and Dysmorphic features

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 20512146 2010 Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

PMID 20036350 2010 Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

rs201893408 in TMEM67 gene and Dysmorphic features

PMID 25920555 2016 Joubert syndrome: genotyping a Northern European patient cohort.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 25729630 2014 Unraveling the genetics of Joubert and Meckel-Gruber syndromes.

PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

PMID 10508989 1999 Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.

PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

PMID 27491411 2016 Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

PMID 20232449 2010 Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

PMID 19778711 2009 Joubert syndrome: insights into brain development, cilium biology, and complex disease.

rs1554062562 in TRIO gene and Dysmorphic features

PMID 26721934 2016 TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

PMID 27418539 2016 Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 28928363 2017 An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.

PMID 8643598 1996 The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 24038936 2013 Clinical significance of de novo and inherited copy-number variation.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

rs1553704696 in TRIP12 gene and Dysmorphic features

PMID 22028794 2011 The E3 ubiquitin ligase activity of Trip12 is essential for mouse embryogenesis.

PMID 18252223 2008 Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

PMID 17940072 2008 The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.

PMID 20676075 2010 MutationTaster evaluates disease-causing potential of sequence alterations.

PMID 21784246 2011 FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism.

PMID 24265227 2014 The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 19028681 2009 The HECT domain of TRIP12 ubiquitinates substrates of the ubiquitin fusion degradation pathway.

PMID 22511880 2012 Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

PMID 27848077 2017 Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

PMID 20208519 2010 Transcription-independent ARF regulation in oncogenic stress-mediated p53 responses.

PMID 18822396 2009 Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.

PMID 28251352 2017 Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 9759494 1998 The ubiquitin system.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 26777411 2016 Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25418537 2014 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

PMID 24265389 2013 Response to comment on: Draznin et al. Pathways to quality inpatient management of hyperglycemia and diabetes: a call to action. Diabetes Care 2013;36:1807-1814.

PMID 22884692 2012 TRIP12 and UBR5 suppress spreading of chromatin ubiquitylation at damaged chromosomes.

rs387907022 in TRMU gene and Dysmorphic features

PMID 25665837 2015 Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?

PMID 25407320 2015 Reversible infantile mitochondrial diseases.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 21931168 2011 Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

PMID 23625533 2013 Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

PMID 21153446 2011 Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.

PMID 19732863 2009 Acute infantile liver failure due to mutations in the TRMU gene.

rs1554596397 in TRPS1 gene and Dysmorphic features

PMID 10615131 2000 Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.

PMID 24709795 2013 The Role of Tricho-Rhino-Phalangeal Syndrome (TRPS) 1 in Apoptosis during Embryonic Development and Tumor Progression.

PMID 14560312 2004 Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.

PMID 25792522 2015 Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

PMID 11112658 2001 Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

rs1555208063 in TRPV4 gene and Dysmorphic features

PMID 22791502 2012 TRPV4-associated skeletal dysplasias.

PMID 20577006 2010 Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

PMID 26249260 2015 A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

PMID 21288981 2011 TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.

PMID 24677493 2014 Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

PMID 4056805 1985 A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis.

PMID 22851605 2012 Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

PMID 20460441 2010 Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

PMID 27330106 2016 Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.

PMID 1520078 1992 A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features.

PMID 21115951 2010 CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.

PMID 20503319 2010 Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

PMID 28898540 2017 Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.

PMID 20037588 2010 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

PMID 21964574 2011 Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

PMID 18587396 2008 Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

PMID 20425821 2010 Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

PMID 20037586 2010 Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

PMID 14755468 2004 Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.

PMID 25900305 2015 Phenotypic variability of TRPV4 related neuropathies.

PMID 11891693 2002 Familial digital arthropathy-brachydactyly.

PMID 19232556 2009 Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

PMID 956253 1976 Parastremmatic dwarfism.

PMID 20037587 2010 Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

rs758522459 in TRUB2;COQ4 gene and Dysmorphic features

PMID 24270420 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

PMID 22368301 2012 Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

PMID 16116126 2005 Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

PMID 25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

PMID 25126048 2014 Genetics of coenzyme q10 deficiency.

PMID 26185144 2015 Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

PMID 28540186 2017 Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ₁₀ deficiency.

PMID 21540551 2011 COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

PMID 18579827 2008 Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency.

PMID 21844807 2011 Coenzyme Q deficiency in muscle.

PMID 18474229 2008 Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.

PMID 17332895 2007 Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

PMID 17485248 2007 CoQ10 deficiency diseases in adults.

rs573518562 in TSPAN1;POMGNT1 gene and Dysmorphic features

PMID 18195152 2008 Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

PMID 24120487 2013 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.

PMID 27391550 2016 Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 26908613 2016 Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

PMID 22419172 2012 Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.

rs1555162323 in TUBA1A gene and Dysmorphic features

PMID 25008804 2015 Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 24860126 2014 The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

PMID 17584854 2007 Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

PMID 18728072 2008 Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

PMID 22264709 2012 TUBA1A mutation-associated lissencephaly: case report and review of the literature.

PMID 18954413 2008 Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.

PMID 18669490 2008 Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

PMID 23528852 2014 A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

PMID 20466733 2010 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

PMID 23361065 2013 Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

rs587777357 in TUBB gene and Dysmorphic features

PMID 24833723 2014 TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons.

PMID 26637975 2015 Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

PMID 23246003 2012 Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

rs1556235119 in UBE2A gene and Dysmorphic features

PMID 24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

PMID 23685073 2013 Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.

PMID 28611923 2017 A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.

PMID 24053514 2013 X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.

PMID 21108393 2010 UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

PMID 16909393 2006 UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.

PMID 25287747 2015 UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.

PMID 20412111 2010 Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

rs1555391286 in UBE3A;SNHG14 gene and Dysmorphic features

PMID 26219744 2015 The neurobehavioral and molecular phenotype of Angelman Syndrome.

PMID 25884337 2015 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.

PMID 25212744 2014 Mutation Update for UBE3A variants in Angelman syndrome.

PMID 19213023 2009 Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.

PMID 22670133 2012 Molecular and Clinical Aspects of Angelman Syndrome.

PMID 24876791 2014 Angelman syndrome: review of clinical and molecular aspects.

PMID 15263005 2004 Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein.

PMID 8988171 1997 UBE3A/E6-AP mutations cause Angelman syndrome.

PMID 2309781 1990 Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

PMID 17765640 2008 Are there distinctive sleep problems in Angelman syndrome?

PMID 16470747 2006 Angelman syndrome 2005: updated consensus for diagnostic criteria.

PMID 17940072 2008 The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.

rs1304422857 in UBE3B gene and Dysmorphic features

PMID 29160006 2018 Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

PMID 28003643 2017 Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

PMID 23687348 2013 Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

PMID 24615390 2014 Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

PMID 23200864 2012 Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

PMID 28003368 2017 UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.

PMID 25691420 2015 Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

PMID 12837265 2003 Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.

rs1555922391 in USP9X gene and Dysmorphic features

PMID 28688840 2017 Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

PMID 25763846 2015 Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

PMID 26833328 2016 De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

PMID 24607389 2014 Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.

PMID 24690944 2014 Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.

rs587777585 in VARS2 gene and Dysmorphic features

PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 23433712 2013 Mitochondrial aminoacyl-tRNA synthetases in human disease.

PMID 24827421 2014 VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

PMID 21708121 2011 Human diseases with impaired mitochondrial protein synthesis.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 27502409 2017 Neonatal encephalocardiomyopathy caused by mutations in VARS2.

rs781969081 in VAX2;ATP6V1B1 gene and Dysmorphic features

PMID 27247958 2016 Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.

PMID 28188436 2017 Clinical and molecular aspects of distal renal tubular acidosis in children.

PMID 7499943 1995 Hearing impairment in association with distal renal tubular acidosis among Saudi children.

PMID 9916796 1999 Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

PMID 23923981 2013 ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.

PMID 23729491 2013 Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.

PMID 16611712 2006 Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

PMID 16769747 2006 Vacuolar H+ -ATPase B1 subunit mutations that cause inherited distal renal tubular acidosis affect proton pump assembly and trafficking in inner medullary collecting duct cells.

PMID 11045400 2000 New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.

rs120074152 in VPS13B gene and Dysmorphic features

PMID 17990063 2007 Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

PMID 9628581 1998 Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PMID 26104215 2015 Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

PMID 20656880 2010 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.

PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

PMID 16648375 2006 Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

PMID 15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

PMID 15498460 2004 Analysis of the human VPS13 gene family.

PMID 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

PMID 21418059 2011 Clinical variability of genetic isolates of Cohen syndrome.

PMID 12730828 2003 Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

PMID 11477603 2001 Cohen syndrome: essential features, natural history, and heterogeneity.

rs864321692 in WAC gene and Dysmorphic features

PMID 26325558 2015 Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

PMID 26757981 2016 De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

PMID 21522184 2011 Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 26264232 2015 WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

rs886041382 in WDR45 gene and Dysmorphic features

PMID 28932395 2017 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.

PMID 26173968 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

PMID 24847269 2014 Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.

PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

PMID 24621584 2014 De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

PMID 20562859 2010 Network organization of the human autophagy system.

PMID 25263061 2014 Early manifestations of BPAN in a pediatric patient.

rs387907329 in WDR45;PRAF2 gene and Dysmorphic features

PMID 26173968 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

PMID 24621584 2014 De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

PMID 24847269 2014 Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.

PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

PMID 20562859 2010 Network organization of the human autophagy system.

PMID 25263061 2014 Early manifestations of BPAN in a pediatric patient.

PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

PMID 28932395 2017 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.

rs121908119 in WNT10A;LOC107984111 gene and Dysmorphic features

PMID 28105635 2017 Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study.

PMID 24700731 2014 The WNT10A gene in ectodermal dysplasias and selective tooth agenesis.

PMID 24043634 2014 WNT10A variants are associated with non-syndromic tooth agenesis in the general population.

PMID 19559398 2009 WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 17847007 2007 Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

rs769391314 in XYLT1 gene and Dysmorphic features

PMID 24581741 2014 XYLT1 mutations in Desbuquois dysplasia type 2.

PMID 28462984 2017 Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.

PMID 23982343 2014 "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation."

PMID 27030147 2016 Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

PMID 26601923 2016 Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.

rs797044806 in XYLT2 gene and Dysmorphic features

PMID 26027496 2015 Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

PMID 28884924 2017 Two novel mutations in XYLT2 cause spondyloocular syndrome.

PMID 26987875 2016 Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

PMID 29136277 2018 Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

rs1553270522 in ZBTB18 gene and Dysmorphic features

PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

PMID 23494996 2013 Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

PMID 17668379 2007 Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

PMID 19409883 2009 The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex.

PMID 20059953 2009 A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 22095278 2012 RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.

PMID 24193349 2014 A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

PMID 25131622 2014 Clinical whole exome sequencing in child neurology practice.

PMID 9756912 1998 RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression.

PMID 17447250 2007 Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain.

PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.

PMID 11854316 2002 Transcription factor haploinsufficiency: when half a loaf is not enough.

PMID 14681759 2003 Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).

PMID 22234186 2012 RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex.

PMID 9568537 1997 C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain.

PMID 27598823 2017 Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

PMID 10567577 1999 The zinc finger-associated SCAN box is a conserved oligomerization domain.

PMID 11350943 2001 Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription.

PMID 20672375 2010 Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 21934713 2012 Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.

PMID 22513377 2012 Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development.

PMID 22678713 2012 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

PMID 11179890 2001 Zinc finger proteins: new insights into structural and functional diversity.

rs1553794464 in ZBTB20-AS1;ZBTB20 gene and Dysmorphic features

PMID 23032108 2013 Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.

PMID 27061120 2016 Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

PMID 25017102 2014 Mutations in ZBTB20 cause Primrose syndrome.

PMID 19273596 2009 Zinc finger protein Zbtb20 is essential for postnatal survival and glucose homeostasis.

PMID 22180640 2012 A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

PMID 28462983 2017 Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

PMID 21567911 2011 Additional features of unique Primrose syndrome phenotype.

rs1555933851 in ZC4H2 gene and Dysmorphic features

PMID 23623388 2013 ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

PMID 26056227 2015 ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

rs1553961516 in ZEB2 gene and Dysmorphic features

PMID 21343952 2011 Clinical utility gene card for: Mowat-Wilson syndrome.

PMID 19842203 2009 Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.

PMID 26809768 2016 A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.

PMID 16053902 2005 Clinical and mutational spectrum of Mowat-Wilson syndrome.

PMID 17958891 2007 Mowat-Wilson syndrome.

PMID 26721324 2016 Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

PMID 27831545 2017 Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

PMID 19764019 2009 Mandibuloacral dysplasia type A in childhood.

rs797044854 in ZMYND11 gene and Dysmorphic features

PMID 24590075 2014 ZMYND11 links histone H3.3K36me3 to transcription elongation and tumour suppression.

PMID 25281490 2015 A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.

PMID 24963723 2014 ZMYND11: an H3.3-specific reader of H3K36me3.

PMID 23372760 2013 Structural and functional analysis of the DEAF-1 and BS69 MYND domains.

PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 16565076 2006 New insights into BS69 functions.

PMID 22847950 2012 Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

rs587777695 in ZSWIM6 gene and Dysmorphic features

PMID 25105228 2014 Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.

PMID 26706854 2016 Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.

PMID 29198722 2017 A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.