|
1
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
4
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
5
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
6
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
7
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
8
|
(HPO:0002411)
|
Myokymia |
|
|
|
|
10 / 7739
|
|
9
|
(HPO:0002486)
|
Myotonia |
rare [HPO:skoehler]
|
|
|
|
29 / 7739
|
|
10
|
(HPO:0002599)
|
Head titubation |
|
|
|
|
7 / 7739
|
|
11
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
12
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
13
|
(OMIM)
|
Absent visual-evoked potentials |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Normal electroretinogram |
|
|
|
|
4 / 7739
|
|
15
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
16
|
(OMIM)
|
Inability to stand without assistance |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Spasticity of the lower limbs |
|
|
|
|
5 / 7739
|
|
18
|
(OMIM)
|
Intellectual impairment, mild |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Impaired distal sensation to vibration and position |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
|
22
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|