1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0009700)
|
Finger symphalangism |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
3
|
(HPO:0005048)
|
Synostosis of carpal bones |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
4
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
5
|
(HPO:0001049)
|
Absent dorsal skin creases over affected joints |
|
|
|
|
2 / 7739
|
6
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
7
|
(HPO:0001204)
|
Distal symphalangism of hands |
|
|
|
|
13 / 7739
|
8
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
9
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
10
|
(HPO:0001798)
|
Anonychia |
|
|
|
|
28 / 7739
|
11
|
(HPO:0001859)
|
Distal foot symphalangism |
|
|
|
|
4 / 7739
|
12
|
(HPO:0100263)
|
Distal symphalangism |
|
|
|
|
5 / 7739
|
13
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
14
|
(OMIM)
|
Forth digit hypophalangism (absence of distal phalanx) |
|
|
|
|
1 / 7739
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
16
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|