×
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