|
1
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
2
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
|
3
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
4
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
5
|
(HPO:0001268)
|
Mental deterioration |
rare [HPO:skoehler]
|
|
|
|
88 / 7739
|
|
6
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
8
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
11
|
(HPO:0003208)
|
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
8 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
13
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|