1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
2
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
3
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
4
|
(HPO:0003041)
|
Humeroradial synostosis |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
5
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
6
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
7
|
(HPO:0005048)
|
Synostosis of carpal bones |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
8
|
(HPO:0009702)
|
Carpal synostosis |
common [HPO]
|
|
|
|
26 / 7739
|
9
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
10
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
11
|
(HPO:0003019)
|
Abnormality of the wrist |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
12
|
(HPO:0009700)
|
Finger symphalangism |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
13
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
14
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
15
|
(HPO:0009466)
|
Radial deviation of finger |
Frequent [Orphanet]
|
|
|
|
101 / 7739
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
17
|
(HPO:0000381)
|
Stapes ankylosis |
typical [HPO]
|
|
|
|
7 / 7739
|
18
|
(HPO:0000405)
|
Conductive hearing impairment |
typical [HPO]
|
|
|
|
164 / 7739
|
19
|
(HPO:0001204)
|
Distal symphalangism of hands |
rare [HPO]
|
|
|
|
13 / 7739
|
20
|
(HPO:0005880)
|
Metacarpophalangeal synostosis |
very rare [HPO]
|
|
|
|
2 / 7739
|
21
|
(HPO:0006152)
|
Proximal symphalangism of hands |
hallmark [HPO]
|
|
|
|
9 / 7739
|
22
|
(HPO:0008368)
|
Tarsal synostosis |
common [HPO]
|
|
|
|
21 / 7739
|
23
|
(HPO:0009843)
|
Aplasia/Hypoplasia of the middle phalanges of the hand |
occasional [HPO]
|
|
|
|
13 / 7739
|
24
|
(HPO:0010047)
|
Short 5th metacarpal |
|
|
|
|
8 / 7739
|
25
|
(HPO:0010194)
|
Aplasia/Hypoplasia of the middle phalanges of the toes |
occasional [HPO]
|
|
|
|
4 / 7739
|