|
1
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
2
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
5
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
7
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
8
|
(HPO:0002074)
|
Increased neuronal autofluorescent lipopigment |
|
|
|
|
10 / 7739
|
|
9
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
10
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
11
|
(HPO:0003205)
|
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
10 / 7739
|
|
12
|
(OMIM)
|
Autofluorescent lipopigment in neurons |
|
|
|
|
11 / 7739
|
|
13
|
(OMIM)
|
Intracellular fingerprint profiles on ultrastructural analysis |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|