|
1
|
(HPO:0003019)
|
Abnormality of the wrist |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
4
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
5
|
(HPO:0009907)
|
Attached earlobe |
|
|
|
|
2 / 7739
|
|
6
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
7
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
9
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
|
10
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
11
|
(OMIM)
|
Multiple osseous dysplasia |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Radiocapitellar joint dysplasia |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Characteristic ear shape |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Elongated attached ear lobe |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Extra small, slightly posterior ear lobule |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
17
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|