|
1
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
|
2
|
(HPO:0001131)
|
Corneal dystrophy |
|
|
|
|
56 / 7739
|
|
3
|
(HPO:0001155)
|
Abnormality of the hand |
|
|
|
|
54 / 7739
|
|
4
|
(HPO:0007795)
|
Anterior cortical cataract |
|
|
|
|
1 / 7739
|
|
5
|
(HPO:0008039)
|
Subepithelial corneal opacities |
|
|
|
|
1 / 7739
|
|
6
|
(HPO:0008134)
|
Irregular tarsal ossification |
|
|
|
|
2 / 7739
|
|
7
|
(HPO:0200036)
|
Skin nodule |
|
|
|
|
4 / 7739
|
|
8
|
(OMIM)
|
Anterior stromal haziness |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Limited hand motion |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
|
11
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
12
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
|
13
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
|
14
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
|
15
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
|
16
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
|
17
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
|
18
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
|
19
|
(OMIM)
|
Limited feet motion |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Defective, irregular tarsal ossification |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Skin nodules - fingers, elbows, nose, ears (onset infancy-childhood) |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|