rs1562846694 in ACTL6B;TFR2 gene and Global developmental delay

PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs587779766 in AHDC1 gene and Global developmental delay

PMID 24791903 2014 De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

rs398122394 in ALG13 gene and Global developmental delay

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs387907144 in ARID1B gene and Global developmental delay

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

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

rs1057517686 in ATAD3A gene and Global developmental delay

PMID 27640307 2016 We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.

rs1135401778 in BPTF gene and Global developmental delay

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

rs180177038 in BRAF gene and Global developmental delay

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

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 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

rs587779349 in BRCA2 gene and Global developmental delay

PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

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

PMID 18855126 2009 Prevalence and characteristics of pancreatic cancer in families with BRCA1 and BRCA2 mutations.

PMID 20587410 2010 Risk of breast cancer in male BRCA2 carriers.

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

PMID 23628597 2013 Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

PMID 19188187 2009 Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations.

rs1135402760 in BRSK2 gene and Global developmental delay

PMID 30879638 2019 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

rs1554904159 in BRSK2;LOC107984298 gene and Global developmental delay

PMID 30879638 2019 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

rs1287121256 in CAMK2A gene and Global developmental delay

PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554385305 in CAMK2B gene and Global developmental delay

PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554333853 in CDK13 gene and Global developmental delay

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

rs768663992 in CLUAP1 gene and Global developmental delay

PMID 28679688 2017 Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

rs1057524157 in DEAF1 gene and Global developmental delay

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

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.

rs797044519 in DYRK1A gene and Global developmental delay

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs797044525 in DYRK1A;LOC105372797 gene and Global developmental delay

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs1057519389 in EBF3 gene and Global developmental delay

PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs758723288 in ECHS1 gene and Global developmental delay

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1555883505 in EEF1A2 gene and Global developmental delay

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs1064795104 in EXOC6B gene and Global developmental delay

PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.

rs772037717 in FBXL4 gene and Global developmental delay

PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs752746786 in GNB1 gene and Global developmental delay

PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs1057516037 in HDAC8 gene and Global developmental delay

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516033 in KAT6B gene and Global developmental delay

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1555889162 in KCNB1;LOC105372649 gene and Global developmental delay

PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

PMID 28252636 2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

rs1057516038 in KIAA0586 gene and Global developmental delay

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs104894366 in KRAS gene and Global developmental delay

PMID 17875939 2007 Vitamin K induces osteoblast differentiation through pregnane X receptor-mediated transcriptional control of the Msx2 gene.

PMID 20949621 2011 Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

PMID 16474405 2006 Germline KRAS mutations cause Noonan syndrome.

rs1057518699 in LAS1L gene and Global developmental delay

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

rs724159949 in LOC105372797;DYRK1A gene and Global developmental delay

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs869320713 in LOC107984190;ZMYND11 gene and Global developmental delay

PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.

rs104894226 in LRRC56;HRAS gene and Global developmental delay

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs1034395178 in LZTR1 gene and Global developmental delay

PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1057519566 in MDH2 gene and Global developmental delay

PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

rs114638163 in MIPEP gene and Global developmental delay

PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs527656756 in MTA3;HAAO gene and Global developmental delay

PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs113994198 in PAFAH1B1 gene and Global developmental delay

PMID 14581661 2003 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 10441340 1999 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

rs121918470 in PTPN11 gene and Global developmental delay

PMID 16638574 2006 Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

PMID 15520399 2004 PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

PMID 15948193 2005 Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

rs1563686762 in RAD21;UTP23 gene and Global developmental delay

PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs80338796 in RAF1 gene and Global developmental delay

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

rs142441643 in SDHA gene and Global developmental delay

PMID 20484225 2010 SDHA is a tumor suppressor gene causing paraganglioma.

PMID 26269449 2015 Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

PMID 28384794 2017 Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

PMID 23612575 2014 Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

rs145999922 in SLC19A3 gene and Global developmental delay

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs776095655 in SLC2A1 gene and Global developmental delay

PMID 25487684 2015 Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.

PMID 22976442 2012 Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

rs1557043622 in SLC35A2 gene and Global developmental delay

PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs431905504 in SLC6A3 gene and Global developmental delay

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

rs869312741 in SMG9 gene and Global developmental delay

PMID 27018474 2016 Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.

rs1114167303 in SON gene and Global developmental delay

PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

rs886039777 in SON;MIR6501 gene and Global developmental delay

PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

rs1114167445 in SPTBN4 gene and Global developmental delay

PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

rs1564351388 in STXBP1 gene and Global developmental delay

PMID 26865513 2016 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

rs372949028 in TANGO2 gene and Global developmental delay

PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

rs1568303086 in TCF4 gene and Global developmental delay

PMID 24077912 2014 The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

PMID 21671391 2011 The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

rs369634007 in TMEM87B gene and Global developmental delay

PMID 27148590 2016 Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.

rs748787734 in TUBB4A gene and Global developmental delay

PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

rs1555582065 in UBTF;LOC101926967 gene and Global developmental delay

PMID 29300972 2018 A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

rs1064794254 in UPF3B gene and Global developmental delay

PMID 22609145 2012 Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.

PMID 19238151 2010 Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.

PMID 17704778 2007 Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

rs1554817910 in ZMIZ1 gene and Global developmental delay

PMID 30639322 2019 ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

rs1447313633 in ZNF142 gene and Global developmental delay

PMID 31036918 2019 Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.