×
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
26805781 2016
×
Entrez Id: 3832
Gene Symbol: KIF11
KIF11
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
25124931 2014
×
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
Novel recessive cone-rod dystrophy caused by POC1B mutation.
24945461 2014
×
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
27668699 2017
×
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
24668509 2014
×
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
10567047 1999
×
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
Mutation of POC1B in a severe syndromic retinal ciliopathy.
25044745 2014
×
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
22290197 2012
AP4B1-AS1
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
22290197 2012
×
Entrez Id: 8417
Gene Symbol: STX7
STX7
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
26395554 2016
×
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
25256811 2014
×
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
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.
26834045 2016
×
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
28356563 2017
×
Entrez Id: 58495
Gene Symbol: OVOL2
OVOL2
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.
28711739 2017
×
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.
28711739 2017
×
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
28942966 2017
×
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
28942966 2017
×
Entrez Id: 25
Gene Symbol: ABL1
ABL1
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
28288113 2017
×
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
28940898 2017
×
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
19770472 2009
×
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
27457812 2017
×
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
25944381 2015
×
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
25944381 2015
×
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
25728777 2015
×
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
25018096 2014