|
1
|
(HPO:0000654)
|
Decreased light- and dark-adapted electroretinogram amplitude |
|
|
|
|
17 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
7
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
8
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
9
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
10
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
11
|
(HPO:0007098)
|
Paroxysmal choreoathetosis |
|
|
|
|
6 / 7739
|
|
12
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
13
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
14
|
(OMIM)
|
Muscle biopsy shows ragged red fibers |
|
|
|
|
4 / 7739
|
|
15
|
(OMIM)
|
Lesions in the caudate and putamen |
|
|
|
|
1 / 7739
|