|
1
|
(HPO:0000317)
|
Facial myokymia |
|
|
|
|
5 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
5
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
6
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
10
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
11
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
|
|
27 / 7739
|
|
12
|
(HPO:0002354)
|
Memory impairment |
|
|
|
|
63 / 7739
|
|
13
|
(HPO:0004373)
|
Focal dystonia |
|
|
|
|
9 / 7739
|
|
14
|
(HPO:0006938)
|
Impaired vibration sensation at ankles |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
|
16
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
17
|
(OMIM)
|
Saccadic intrusions |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Myclonus (rare) |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
20
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
21
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|