|
1
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
2
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
3
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
4
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
5
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
6
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
7
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
8
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
9
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
10
|
(HPO:0007338)
|
Hypermetric saccades |
|
|
|
|
5 / 7739
|
|
11
|
(OMIM)
|
Difficulty reading |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Overshooting horizontal saccades |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Macrosaccadic oscillations |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Increased velocity of larger saccades |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
16
|
(OMIM)
|
Impaired distal sensation of all modalities |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Axonal sensorimotor neuropathy |
|
|
|
|
6 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|