|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
7
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
8
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
9
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
10
|
(OMIM)
|
Normal retina |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Marked psychomotor retardation |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Nonprogressive cerebellar dysfunction |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Wide-based ataxic gait |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
15
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|