|
1
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
2
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
3
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
4
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0000612)
|
Iris coloboma |
|
|
|
|
116 / 7739
|
|
6
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
7
|
(HPO:0002942)
|
Thoracic kyphosis |
|
|
|
|
14 / 7739
|
|
8
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
9
|
(HPO:0005306)
|
Capillary hemangiomas |
|
|
|
|
8 / 7739
|
|
10
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
11
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
12
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
13
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
14
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
15
|
(OMIM)
|
Speech never acquired |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|