|
1
|
(HPO:0000473)
|
Torticollis |
|
|
|
|
42 / 7739
|
|
2
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
3
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0001348)
|
Brisk reflexes |
|
|
|
|
15 / 7739
|
|
5
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
|
6
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
7
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0007979)
|
Gaze-evoked horizontal nystagmus |
|
|
|
|
5 / 7739
|
|
9
|
(HPO:0012179)
|
Craniofacial dystonia |
|
|
|
|
4 / 7739
|
|
10
|
(OMIM)
|
Facial dystonia |
|
|
|
|
6 / 7739
|
|
11
|
(OMIM)
|
Spasmodic dysphonia due to laryngeal spasm |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0004373)
|
Focal dystonia |
|
|
|
|
9 / 7739
|
|
13
|
(OMIM)
|
Dystonia may become generalized |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Cerebellar ataxia, slowly progressive |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|