|
1
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
2
|
(HPO:0000496)
|
Abnormality of eye movement |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
4
|
(HPO:0000464)
|
Abnormality of the neck |
|
|
|
|
31 / 7739
|
|
5
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
6
|
(HPO:0002131)
|
Episodic ataxia |
|
|
|
|
16 / 7739
|
|
7
|
(HPO:0002312)
|
Clumsiness |
|
|
|
|
28 / 7739
|
|
8
|
(HPO:0002548)
|
Parkinsonism with favorable response to dopaminergic medication |
|
|
|
|
13 / 7739
|
|
9
|
(OMIM)
|
Episodic tonic upward deviation of eyes |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Delayed walking |
|
|
|
|
13 / 7739
|
|
11
|
(OMIM)
|
Forward neck bending |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|