|
1
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
3
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
5
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
6
|
(HPO:0001347)
|
Hyperreflexia |
rare [HPO:skoehler]
|
|
|
|
363 / 7739
|
|
7
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
8
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
9
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
11
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
12
|
(HPO:0002070)
|
Limb ataxia |
|
|
|
|
41 / 7739
|
|
13
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
|
|
27 / 7739
|
|
14
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
15
|
(HPO:0002174)
|
Postural tremor |
|
|
|
|
22 / 7739
|
|
16
|
(HPO:0002396)
|
Cogwheel rigidity |
rare [HPO:skoehler]
|
|
|
|
6 / 7739
|
|
17
|
(HPO:0007944)
|
Intermittent microsaccadic pursuits |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0007979)
|
Gaze-evoked horizontal nystagmus |
|
|
|
|
5 / 7739
|
|
19
|
(HPO:0100543)
|
Cognitive impairment |
Occasional [HPO:probinson]
|
|
|
|
230 / 7739
|
|
20
|
(OMIM)
|
Saccadic pursuit |
|
|
|
|
7 / 7739
|
|
21
|
(OMIM)
|
Postural tremor, slow, irregular (in some patients) |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Impaired vibration sense at the ankles (in some patients) |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
24
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|