1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
3
|
(HPO:0100759)
|
Clubbing of fingers |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
4
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
5
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
6
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
7
|
(HPO:0005048)
|
Synostosis of carpal bones |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
8
|
(HPO:0003063)
|
Abnormality of the humerus |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
9
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
10
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
11
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
12
|
(HPO:0001233)
|
2-3 finger syndactyly |
|
|
|
|
7 / 7739
|
13
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
14
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
15
|
(HPO:0006190)
|
Radially deviated wrists |
|
|
|
|
1 / 7739
|
16
|
(HPO:0009183)
|
Joint contracture of the 5th finger |
|
|
|
|
8 / 7739
|
17
|
(OMIM)
|
Enlarged, poorly modeled metaphyses (distal humeri, proximal radii, and proximal ulnae) |
|
|
|
|
1 / 7739
|
18
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
19
|
(OMIM)
|
Large triquetrum |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Scaphoid-lunate fusion |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Triquetro-pisiform fusion |
|
|
|
|
1 / 7739
|
22
|
(HPO:0001191)
|
Abnormality of the carpal bones |
|
|
|
|
6 / 7739
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
24
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|