|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
4
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
7
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
8
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
9
|
(HPO:0002350)
|
Cerebellar cyst |
|
|
|
|
14 / 7739
|
|
10
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
11
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
12
|
(OMIM)
|
Muscle biopsy shows decreased glycosylation of alpha-dystroglycan |
|
|
|
|
9 / 7739
|
|
13
|
(OMIM)
|
Only walking achieved |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
White matter changes |
|
|
|
|
7 / 7739
|
|
15
|
(OMIM)
|
Pontine hypoplasia |
|
|
|
|
8 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
17
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
18
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
|
|
22 / 7739
|
|
19
|
(HPO:0012110)
|
Hypoplasia of the pons |
|
|
|
|
16 / 7739
|