Condition: Microcephaly (physical finding)
rs1060499548 in
ABL1 gene and
Microcephaly (physical finding)
PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
rs587779388 in
AP4B1;AP4B1-AS1 gene and
Microcephaly (physical finding)
PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
PMID 22290197 2012 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
PMID 21440262 2011 A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.
rs1064795945 in
ASPM gene and
Microcephaly (physical finding)
PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.
PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
rs1555649483 in
BPTF gene and
Microcephaly (physical finding)
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1554389088 in
CAMK2B gene and
Microcephaly (physical finding)
PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
rs779027563 in
CNTNAP1 gene and
Microcephaly (physical finding)
PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
rs587777623 in
DEAF1 gene and
Microcephaly (physical finding)
PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
PMID 24668509 2014 Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
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.
rs797044519 in
DYRK1A gene and
Microcephaly (physical finding)
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
Microcephaly (physical finding)
PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
rs1064795104 in
EXOC6B gene and
Microcephaly (physical finding)
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.
rs767961672 in
FOXG1 gene and
Microcephaly (physical finding)
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516037 in
HDAC8 gene and
Microcephaly (physical finding)
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs776679653 in
ISCA1 gene and
Microcephaly (physical finding)
PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
rs786200952 in
KAT6A gene and
Microcephaly (physical finding)
PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
rs1064796738 in
KIF11 gene and
Microcephaly (physical finding)
PMID 25115524 2014 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
PMID 25124931 2014 Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
rs724159949 in
LOC105372797;DYRK1A gene and
Microcephaly (physical finding)
PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
rs1034395178 in
LZTR1 gene and
Microcephaly (physical finding)
PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
rs1057516034 in
NIPBL gene and
Microcephaly (physical finding)
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1555789140 in
OVOL2;MGME1;SNX5 gene and
Microcephaly (physical finding)
PMID 28711739 2017 Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.
rs796051881 in
PEX5 gene and
Microcephaly (physical finding)
PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
rs76216585 in
POC1B gene and
Microcephaly (physical finding)
PMID 24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.
PMID 25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.
PMID 25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
rs1563686762 in
RAD21;UTP23 gene and
Microcephaly (physical finding)
PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
rs1554297905 in
RALA gene and
Microcephaly (physical finding)
PMID 30500825 2018 De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
rs864309676 in
STX7 gene and
Microcephaly (physical finding)
PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
rs752298579 in
TANGO2 gene and
Microcephaly (physical finding)
PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
rs771551765 in
TMEM67 gene and
Microcephaly (physical finding)
PMID 10567047 1999 Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
PMID 27457812 2017 Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
rs369634007 in
TMEM87B gene and
Microcephaly (physical finding)
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.
rs777593389 in
VPS13B gene and
Microcephaly (physical finding)
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.