|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000518)
|
Cataract |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001256)
|
Intellectual disability, mild |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
|
9
|
(HPO:0001638)
|
Cardiomyopathy |
rare [HPO:skoehler]
|
|
|
|
192 / 7739
|
|
10
|
(HPO:0002093)
|
Respiratory insufficiency |
rare [HPO:skoehler]
|
|
|
|
410 / 7739
|
|
11
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
12
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
13
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
14
|
(HPO:0010697)
|
Anterior pyramidal cataract |
|
|
|
|
22 / 7739
|
|
15
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
16
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
17
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
18
|
(OMIM)
|
Muscle biopsy shows hypoglycosylation of alpha-dystroglycan |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|