|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
|
3
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
5
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
6
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
7
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
8
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
9
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
10
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
11
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
12
|
(OMIM)
|
Severe spasticity |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Bird-like appearance |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Bilateral hip dislocation |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|