×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
0.110
Biomarker
disease
HPO
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
0.110
GeneticVariation
disease
BEFREE
A 13-month-old Caucasian girl of Irish and Spanish ancestry was noted to have micrognathia and laryngomalacia at birth, which prompted a genetic evaluation that revealed biallelic deletions in COH1 (VPS13B) (a maternally inherited 60-kb deletion involving exons 26-32 and a paternally inherited 3.5-kb deletion within exon 17) consistent with Cohen syndrome.
29634382
2018
×
Entrez Id:
3239
Gene Symbol:
HOXD13
HOXD13
0.100
Biomarker
disease
HPO
×
Entrez Id:
27125
Gene Symbol:
AFF4
AFF4
0.100
Biomarker
disease
HPO
×
Entrez Id:
6239
Gene Symbol:
RREB1
RREB1
0.100
Biomarker
disease
HPO
×
Entrez Id:
1123
Gene Symbol:
CHN1
CHN1
0.100
GeneticVariation
disease
CLINVAR
KCNMA1-AS1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
374654
Gene Symbol:
KIF7
KIF7
0.100
Biomarker
disease
HPO
×
Entrez Id:
4285
Gene Symbol:
MIPEP
MIPEP
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
0.100
Biomarker
disease
HPO
×
Entrez Id:
7486
Gene Symbol:
WRN
WRN
0.100
Biomarker
disease
HPO
×
Entrez Id:
23594
Gene Symbol:
ORC6
ORC6
0.100
Biomarker
disease
HPO
×
Entrez Id:
6926
Gene Symbol:
TBX3
TBX3
0.100
Biomarker
disease
HPO
×
Entrez Id:
219844
Gene Symbol:
HYLS1
HYLS1
0.100
Biomarker
disease
HPO
×
Entrez Id:
2812
Gene Symbol:
GP1BB
GP1BB
0.100
Biomarker
disease
HPO
×
Entrez Id:
91179
Gene Symbol:
SCARF2
SCARF2
0.100
Biomarker
disease
HPO
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
0.100
CausalMutation
disease
CLINVAR
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
26350204
2015
×
Entrez Id:
6134
Gene Symbol:
RPL10
RPL10
0.100
Biomarker
disease
HPO
×
Entrez Id:
3778
Gene Symbol:
KCNMA1
KCNMA1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
4038
Gene Symbol:
LRP4
LRP4
0.100
Biomarker
disease
HPO
×
Entrez Id:
80816
Gene Symbol:
ASXL3
ASXL3
0.100
CausalMutation
disease
CLINVAR
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
27075689
2016
×
Entrez Id:
1312
Gene Symbol:
COMT
COMT
0.100
Biomarker
disease
HPO
×
Entrez Id:
4604
Gene Symbol:
MYBPC1
MYBPC1
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
3339
Gene Symbol:
HSPG2
HSPG2
0.100
Biomarker
disease
HPO
×
Entrez Id:
427
Gene Symbol:
ASAH1
ASAH1
0.100
Biomarker
disease
HPO