×
Entrez Id: 84294
Gene Symbol: UTP23
UTP23
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
30125677 2019
×
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
30125677 2019
×
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
29469822 2018
×
Entrez Id: 5898
Gene Symbol: RALA
RALA
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
30500825 2018
×
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: 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: 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: 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: 816
Gene Symbol: CAMK2B
CAMK2B
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089 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: 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: 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: 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: 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: 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: 157680
Gene Symbol: VPS13B
VPS13B
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784 2016
×
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784 2016
×
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: 25836
Gene Symbol: NIPBL
NIPBL
Microcephaly (physical finding)
0.100
CausalMutation
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784 2016
×
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784 2016
×
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
26795593 2016
×
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
Microcephaly (physical finding)
0.100
GeneticVariation
CLINVAR
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.
27148590 2016
×
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: 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: 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