|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
4
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
5
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
6
|
(HPO:0002131)
|
Episodic ataxia |
|
|
|
|
16 / 7739
|
|
7
|
(HPO:0006852)
|
Episodic generalized hypotonia |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Progressive optic atrophy |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Relapsing, early onset cerebellar ataxia |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
11
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
13
|
(OMIM)
|
Pes cavus deformity |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Normal cranial MRI |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000408)
|
Progressive sensorineural hearing impairment |
|
|
|
|
28 / 7739
|
|
16
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
17
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
18
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
19
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
|
20
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
21
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
22
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
23
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
24
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|