|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
7
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0002062)
|
Morphological abnormality of the pyramidal tract |
|
|
|
|
24 / 7739
|
|
10
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
11
|
(HPO:0002070)
|
Limb ataxia |
|
|
|
|
41 / 7739
|
|
12
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
|
|
27 / 7739
|
|
13
|
(HPO:0002406)
|
Limb dysmetria |
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
15
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
16
|
(OMIM)
|
Inability to run |
|
|
|
|
3 / 7739
|
|
17
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
19
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|