|
1
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
2
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000550)
|
Undetectable electroretinogram |
|
|
|
|
25 / 7739
|
|
4
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
7
|
(HPO:0001311)
|
Abnormal nervous system electrophysiology |
|
|
|
|
4 / 7739
|
|
8
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
9
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
10
|
(HPO:0003205)
|
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
10 / 7739
|
|
11
|
(HPO:0003463)
|
Increased extraneuronal autofluorescent lipopigment |
|
|
|
|
3 / 7739
|
|
12
|
(OMIM)
|
Developmental regression after age 2 years |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Autofluorescent lipopigment in neurons |
|
|
|
|
11 / 7739
|