×
Entrez Id:
9024
Gene Symbol:
BRSK2
BRSK2
Dysmorphic facies
0.100
GeneticVariation
CLINVAR
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
30879638
2019
×
Entrez Id:
51294
Gene Symbol:
PCDH12
PCDH12
Dysmorphic facies
0.100
GeneticVariation
CLINVAR
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
30459466
2019
×
Entrez Id:
5898
Gene Symbol:
RALA
RALA
Dysmorphic facies
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:
84910
Gene Symbol:
TMEM87B
TMEM87B
Dysmorphic facies
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:
56006
Gene Symbol:
SMG9
SMG9
Dysmorphic facies
0.100
GeneticVariation
CLINVAR
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
27018474
2016
×
Entrez Id:
23233
Gene Symbol:
EXOC6B
EXOC6B
Dysmorphic facies
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:
23233
Gene Symbol:
EXOC6B
EXOC6B
Dysmorphic facies
0.100
GeneticVariation
CLINVAR
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
23422942
2013
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Dysmorphic facies
0.100
CausalMutation
CLINVAR
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
19508969
2009
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Dysmorphic facies
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
29911
Gene Symbol:
HOOK2
HOOK2
Dysmorphic facies
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
23314
Gene Symbol:
SATB2
SATB2
Dysmorphic facies
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
79813
Gene Symbol:
EHMT1
EHMT1
Dysmorphic facies
0.100
CausalMutation
CLINVAR
×
Entrez Id:
253738
Gene Symbol:
EBF3
EBF3
Dysmorphic facies
0.100
CausalMutation
CLINVAR
×
Entrez Id:
6878
Gene Symbol:
TAF6
TAF6
Dysmorphic facies
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
1654
Gene Symbol:
DDX3X
DDX3X
Dysmorphic facies
0.100
CausalMutation
CLINVAR
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
Dysmorphic facies
0.100
CausalMutation
CLINVAR
×
Entrez Id:
57728
Gene Symbol:
WDR19
WDR19
Dysmorphic facies
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Dysmorphic facies
0.100
CausalMutation
CLINVAR
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Dysmorphic facies
0.100
CausalMutation
CLINVAR
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
Dysmorphic facies
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
6595
Gene Symbol:
SMARCA2
SMARCA2
Dysmorphic facies
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
4669
Gene Symbol:
NAGLU
NAGLU
Dysmorphic facies
0.100
CausalMutation
CLINVAR
×
Entrez Id:
339400
Gene Symbol:
FLG-AS1
FLG-AS1
Dysmorphic facies
0.100
CausalMutation
CLINVAR
×
Entrez Id:
10716
Gene Symbol:
TBR1
TBR1
Dysmorphic facies
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
80816
Gene Symbol:
ASXL3
ASXL3
Dysmorphic facies
0.100
CausalMutation
CLINVAR