|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
3
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
4
|
(HPO:0001609)
|
Hoarse voice |
|
|
|
|
34 / 7739
|
|
5
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
|
6
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
7
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
9
|
(HPO:0003445)
|
EMG: neuropathic changes |
|
|
|
|
21 / 7739
|
|
10
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
11
|
(HPO:0006511)
|
Laryngeal stridor |
|
|
|
|
6 / 7739
|
|
12
|
(HPO:0007289)
|
Limb fasciculations |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0008003)
|
Jerky ocular pursuit movements |
|
|
|
|
4 / 7739
|
|
14
|
(OMIM)
|
Glottic airway narrowing caused by laryngeal abductor paralysis |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Nocturnal dyspnea |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Mild distal muscle atrophy |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
EMG shows neurogenic findings |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|