|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
3
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
4
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
5
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
6
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
7
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
8
|
(HPO:0002663)
|
Delayed epiphyseal ossification |
|
|
|
|
21 / 7739
|
|
9
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
10
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
11
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
|
13
|
(HPO:0005622)
|
Broad long bones |
|
|
|
|
8 / 7739
|
|
14
|
(OMIM)
|
Severe glaucoma |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Exophthalmia |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Short, broad long bones with flared metaphyses |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Severe micromelia |
|
|
|
|
5 / 7739
|
|
18
|
(OMIM)
|
Contractures of elbow and hip |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|