|
1
|
(HPO:0000514)
|
Slow saccadic eye movements |
|
|
|
|
21 / 7739
|
|
2
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
3
|
(HPO:0000608)
|
Macular degeneration |
|
|
|
|
36 / 7739
|
|
4
|
(HPO:0000623)
|
Supranuclear ophthalmoplegia |
|
|
|
|
5 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
2/2 [HPO]
|
|
19659750
|
IBIS
|
555 / 7739
|
|
6
|
(HPO:0000648)
|
Optic atrophy |
1/2 [HPO]
|
|
19659750
|
IBIS
|
238 / 7739
|
|
7
|
(HPO:0001146)
|
Pigmentary retinal degeneration |
|
|
|
|
15 / 7739
|
|
8
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
9
|
(HPO:0001260)
|
Dysarthria |
2/2 [HPO]
|
|
19659750
|
IBIS
|
329 / 7739
|
|
10
|
(HPO:0001268)
|
Mental deterioration |
rare [HPO]
|
|
9781533
|
IBIS
|
88 / 7739
|
|
11
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
12
|
(HPO:0001337)
|
Tremor |
2/2 [HPO]
|
|
19659750
|
IBIS
|
200 / 7739
|
|
13
|
(HPO:0001347)
|
Hyperreflexia |
7/7 [HPO]
|
|
|
|
363 / 7739
|
|
14
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
15
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
16
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
17
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
2/2 [HPO]
|
|
19659750
|
IBIS
|
27 / 7739
|
|
18
|
(HPO:0002310)
|
Orofacial dyskinesia |
|
|
|
|
10 / 7739
|
|
19
|
(HPO:0002542)
|
Olivopontocerebellar atrophy |
|
|
|
|
11 / 7739
|
|
20
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
21
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
22
|
(OMIM)
|
Cognitive dysfunction |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
24
|
(HPO:0003744)
|
Genetic anticipation with paternal anticipation bias |
|
|
|
|
2 / 7739
|