×
Entrez Id:
2737
Gene Symbol:
GLI3
GLI3
1-3 toe syndactyly
0.100
CausalMutation
CLINVAR
×
Entrez Id:
4038
Gene Symbol:
LRP4
LRP4
1-5 finger syndactyly
0.100
CausalMutation
CLINVAR
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.
28559208
2017
×
Entrez Id:
23498
Gene Symbol:
HAAO
HAAO
11 pairs of ribs
0.100
CausalMutation
CLINVAR
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
28792876
2017
×
Entrez Id:
8942
Gene Symbol:
KYNU
KYNU
11 pairs of ribs
0.100
CausalMutation
CLINVAR
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
28792876
2017
×
Entrez Id:
473
Gene Symbol:
RERE
RERE
11 pairs of ribs
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.
17509588
2008
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.
23295294
2012
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
8550739
1996
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.
9758445
1998
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?
24025597
2013
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings.
22212252
2011
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis.
21214500
2011
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.
10599740
1999
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.
19498320
2009
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GeneticVariation
CLINVAR
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
2-3 toe syndactyly
0.100
GeneticVariation
CLINVAR
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
28213671
2017
×
Entrez Id:
25
Gene Symbol:
ABL1
ABL1
2-3 toe syndactyly
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:
84295
Gene Symbol:
PHF6
PHF6
2-3 toe syndactyly
0.100
CausalMutation
CLINVAR
×
Entrez Id:
8942
Gene Symbol:
KYNU
KYNU
2-3 toe syndactyly
0.100
CausalMutation
CLINVAR
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
28792876
2017
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
2-3 toe syndactyly
0.100
CausalMutation
CLINVAR
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
2-3 toe syndactyly
0.100
CausalMutation
CLINVAR
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
2-3 toe syndactyly
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
166378
Gene Symbol:
SPATA5
SPATA5
2-3 toe syndactyly
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
2-3 toe syndactyly
0.100
CausalMutation
CLINVAR
×
Entrez Id:
10075
Gene Symbol:
HUWE1
HUWE1
2-3 toe syndactyly
0.100
CausalMutation
CLINVAR