|
1
|
(HPO:0000598)
|
Abnormality of the ear |
|
|
|
|
98 / 7739
|
|
2
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
3
|
(HPO:0001597)
|
Abnormality of the nail |
|
|
|
|
115 / 7739
|
|
4
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
|
5
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
6
|
(HPO:0006466)
|
Ankle contracture |
|
|
|
|
17 / 7739
|
|
7
|
(HPO:0006492)
|
Aplasia/Hypoplasia of the fibula |
|
|
|
|
3 / 7739
|
|
8
|
(OMIM)
|
Minor craniofacial abnormalities |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Contractures of hips, knees, and ankles |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Immobility of some interphalangeal joints |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Partial nail aplasia |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Ear dysplasia |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|