|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
4
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
5
|
(HPO:0009700)
|
Finger symphalangism |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
6
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
7
|
(HPO:0005048)
|
Synostosis of carpal bones |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
8
|
(HPO:0002974)
|
Radioulnar synostosis |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
9
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
10
|
(HPO:0000485)
|
Megalocornea |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
11
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
12
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
13
|
(HPO:0005011)
|
Mesomelic arm shortening |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
15
|
(HPO:0003063)
|
Abnormality of the humerus |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
16
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
17
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
18
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
19
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
|
20
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
21
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
22
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
|
23
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
|
24
|
(HPO:0006055)
|
Ulnar deviated club hands |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0006169)
|
Decreased mobility 3rd-5th fingers |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0006439)
|
Radioulnar dislocation |
|
|
|
|
3 / 7739
|
|
27
|
(HPO:0006441)
|
Lateral humeral condyle aplasia |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0012478)
|
Temporomandibular joint ankylosis |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Shallow glenoid fossa |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Obtuse mandibular angle |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Absent coronoid process |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0009827)
|
Amelia |
|
|
|
|
12 / 7739
|
|
33
|
(HPO:0009829)
|
Phocomelia |
|
|
|
|
20 / 7739
|
|
34
|
(OMIM)
|
Proximal radioulnar dislocation |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Absent radial heads |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0011849)
|
Abnormal bone ossification |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
37
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
38
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|