|
1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0000541)
|
Retinal detachment |
|
|
|
|
87 / 7739
|
|
4
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
5
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
6
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
|
|
26 / 7739
|
|
7
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
10
|
(HPO:0002350)
|
Cerebellar cyst |
|
|
|
|
14 / 7739
|
|
11
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
12
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
13
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
|
14
|
(HPO:0007033)
|
Cerebellar dysplasia |
|
|
|
|
13 / 7739
|
|
15
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
16
|
(HPO:0007260)
|
Type II lissencephaly |
|
|
|
|
13 / 7739
|
|
17
|
(OMIM)
|
Decreased glycosylation of alpha-dystroglycan seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Delayed psychomotor development, severe |
|
|
|
|
14 / 7739
|
|
19
|
(OMIM)
|
Lack of acquisition of motor milestones |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Severe cognitive impairment |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Frontotemporal leukoencephalopathy |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0012110)
|
Hypoplasia of the pons |
|
|
|
|
16 / 7739
|