|
1
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
2
|
(HPO:0001762)
|
Talipes equinovarus |
Very frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
3
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
|
4
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
5
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
6
|
(HPO:0001800)
|
Hypoplastic toenails |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
7
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
8
|
(HPO:0008807)
|
Acetabular dysplasia |
|
|
|
|
6 / 7739
|
|
9
|
(OMIM)
|
Tall, narrow ilia |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Thickened inferior pubic ramus (ischium) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Infra-acetabular axe-cut notches |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Lack of normal iliac flare |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Short and thickened first and/or second metatarsal |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Short calcaneus |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Hypoplastic distal tibial epiphysis |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Tufted distal phalanx of the first toe |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|