|
1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0001305)
|
Dandy-Walker malformation |
frequent [HPO:skoehler]
|
|
|
|
79 / 7739
|
|
7
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
8
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
9
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
10
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
|
11
|
(HPO:0007260)
|
Type II lissencephaly |
|
|
|
|
13 / 7739
|
|
12
|
(HPO:0007973)
|
Retinal dysplasia |
|
|
|
|
27 / 7739
|
|
13
|
(OMIM)
|
Widened anterior fontanelles |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Muscle biopsy shows decreased glycosylation of alpha-dystroglycan |
|
|
|
|
9 / 7739
|
|
15
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
16
|
(OMIM)
|
Absence of the cerebellar vermis |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Hypoplasia of the cerebellum |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Dysplastic cerebellum |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
White matter changes |
|
|
|
|
7 / 7739
|
|
20
|
(OMIM)
|
Pontine hypoplasia |
|
|
|
|
8 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0012110)
|
Hypoplasia of the pons |
|
|
|
|
16 / 7739
|