1
|
(HPO:0000360)
|
Tinnitus |
|
|
|
|
29 / 7739
|
2
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
|
|
27 / 7739
|
3
|
(HPO:0000651)
|
Diplopia |
|
|
|
|
37 / 7739
|
4
|
(HPO:0001152)
|
Saccadic smooth pursuit |
|
|
|
|
6 / 7739
|
5
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
7
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
8
|
(HPO:0001751)
|
Vestibular dysfunction |
|
|
|
|
19 / 7739
|
9
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
|
|
27 / 7739
|
10
|
(HPO:0002076)
|
Migraine |
|
|
|
|
41 / 7739
|
11
|
(HPO:0002131)
|
Episodic ataxia |
|
|
|
|
16 / 7739
|
12
|
(HPO:0002321)
|
Vertigo |
|
|
|
|
58 / 7739
|
13
|
(HPO:0002486)
|
Myotonia |
|
|
|
|
29 / 7739
|
14
|
(HPO:0003401)
|
Paresthesia |
|
|
|
|
42 / 7739
|
15
|
(HPO:0006855)
|
Cerebellar vermis atrophy |
|
|
|
|
8 / 7739
|
16
|
(HPO:0010545)
|
Downbeat nystagmus |
|
|
|
|
2 / 7739
|
17
|
(OMIM)
|
Ictal and interictal diplopia |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Suppression of vestibuloocular reflex |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Interictal downbeat nystagmus |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Ocular abnormalities often persist between attacks |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Unsteadiness, episodic |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Interictal dystonia may occur later in disease course |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Interictal ataxia may occur later in disease course |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
EEG with paroxysmal activity |
|
|
|
|
1 / 7739
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
26
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|