|
1
|
(HPO:0005048)
|
Synostosis of carpal bones |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
2
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
3
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
|
4
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
|
5
|
(HPO:0009465)
|
Ulnar deviation of finger |
Very frequent [Orphanet]
|
|
|
|
48 / 7739
|
|
6
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
7
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
9
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
10
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
|
11
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
12
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
13
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
14
|
(HPO:0008921)
|
Neonatal short-limb short stature |
|
|
|
|
12 / 7739
|
|
15
|
(OMIM)
|
Abnormal radius |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Abnormal tibia |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Normocephaly |
|
|
|
|
10 / 7739
|
|
18
|
(OMIM)
|
Normal facies |
|
|
|
|
9 / 7739
|
|
19
|
(HPO:0200040)
|
Epidermoid cyst |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|