|
1
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
2
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001311)
|
Abnormal nervous system electrophysiology |
|
|
|
|
4 / 7739
|
|
5
|
(HPO:0002074)
|
Increased neuronal autofluorescent lipopigment |
|
|
|
|
10 / 7739
|
|
6
|
(HPO:0002333)
|
Motor deterioration |
|
|
|
|
7 / 7739
|
|
7
|
(HPO:0003205)
|
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
10 / 7739
|
|
8
|
(HPO:0003208)
|
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
8 / 7739
|
|
9
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
10
|
(OMIM)
|
Autofluorescent lipopigment in neurons |
|
|
|
|
11 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|