|
1
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
2
|
(HPO:0001040)
|
Multiple pterygia |
|
|
|
|
5 / 7739
|
|
3
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
4
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
|
5
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
6
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
7
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
|
8
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0001363)
|
Craniosynostosis |
rare [HPO:skoehler]
|
|
|
|
132 / 7739
|
|
11
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
12
|
(HPO:0002948)
|
Vertebral fusion |
|
|
|
|
28 / 7739
|
|
13
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
14
|
(HPO:0003273)
|
Hip contracture |
rare [HPO:skoehler]
|
|
|
|
30 / 7739
|
|
15
|
(HPO:0003302)
|
Spondylolisthesis |
rare [HPO:skoehler]
|
|
|
|
14 / 7739
|
|
16
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
17
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
18
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|