|
1
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
2
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
6
|
(HPO:0001311)
|
Abnormal nervous system electrophysiology |
|
|
|
|
4 / 7739
|
|
7
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
8
|
(HPO:0002074)
|
Increased neuronal autofluorescent lipopigment |
|
|
|
|
10 / 7739
|
|
9
|
(HPO:0002312)
|
Clumsiness |
|
|
|
|
28 / 7739
|
|
10
|
(HPO:0002333)
|
Motor deterioration |
|
|
|
|
7 / 7739
|
|
11
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
12
|
(HPO:0003205)
|
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
10 / 7739
|
|
13
|
(HPO:0003208)
|
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
8 / 7739
|
|
14
|
(HPO:0003226)
|
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Characteristic findings on MRI |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Autofluorescent lipopigment in neurons |
|
|
|
|
11 / 7739
|
|
17
|
(OMIM)
|
Concentration difficulties |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
20
|
(HPO:0001260)
|
Dysarthria |
rare [HPO:skoehler]
|
|
|
|
329 / 7739
|
|
21
|
(HPO:0001272)
|
Cerebellar atrophy |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
|
22
|
(HPO:0001310)
|
Dysmetria |
rare [HPO:skoehler]
|
|
|
|
76 / 7739
|
|
23
|
(HPO:0002075)
|
Dysdiadochokinesis |
rare [HPO:skoehler]
|
|
|
|
40 / 7739
|