|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
3
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
4
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
5
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
6
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
7
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
8
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
9
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
10
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
11
|
(HPO:0002197)
|
Generalized seizures |
|
|
|
|
30 / 7739
|
|
12
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
13
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
14
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
|
15
|
(OMIM)
|
Cerebral and cerebellar atrophy |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Distal loss of vibratory sense |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
18
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
19
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|