|
1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
5
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
6
|
(HPO:0007260)
|
Type II lissencephaly |
|
|
|
|
13 / 7739
|
|
7
|
(HPO:0007973)
|
Retinal dysplasia |
|
|
|
|
27 / 7739
|
|
8
|
(OMIM)
|
Macrophthalmia |
|
|
|
|
2 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
11
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
12
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
14
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|