|
1
|
(HPO:0000488)
|
Retinopathy |
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
4
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
5
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
9
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
11
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
|
13
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
14
|
(HPO:0002360)
|
Sleep disturbance |
|
|
|
|
113 / 7739
|
|
15
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
16
|
(OMIM)
|
Cognitive decline, rapid |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Refractory seizures |
|
|
|
|
15 / 7739
|
|
18
|
(OMIM)
|
Intracellular accumulation of material resulting in curvilinear profiles on ultrastructural analysis |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Intracellular accumulation of material resulting in fingerprint profiles on ultrastructural analysis |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Intracellular accumulation of material resulting in rectilinear profiles on ultrastructural analysis |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
23
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
24
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|