|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001802)
|
Absent toenail |
|
|
|
|
6 / 7739
|
|
4
|
(HPO:0001762)
|
Talipes equinovarus |
Very frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
5
|
(HPO:0010055)
|
Broad hallux |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
6
|
(HPO:0009465)
|
Ulnar deviation of finger |
Very frequent [Orphanet]
|
|
|
|
48 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
10
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
11
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
12
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
13
|
(HPO:0001817)
|
Absent fingernail |
|
|
|
|
2 / 7739
|
|
14
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
15
|
(HPO:0002996)
|
Limited elbow movement |
|
|
|
|
16 / 7739
|
|
16
|
(HPO:0005648)
|
Bilateral ulnar hypoplasia |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0010501)
|
Limitation of knee mobility |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Severe varus deformity |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Bilateral symmetrical ulnar hypoplasia |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0001800)
|
Hypoplastic toenails |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
21
|
(HPO:0001172)
|
Abnormality of the thumb |
Frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
22
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
23
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|