1
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
2
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
3
|
(HPO:0000550)
|
Undetectable electroretinogram |
|
|
|
|
25 / 7739
|
4
|
(HPO:0000608)
|
Macular degeneration |
|
|
|
|
36 / 7739
|
5
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
6
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
7
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
8
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
9
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
10
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
12
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
13
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
14
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
15
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
16
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
17
|
(HPO:0001922)
|
Vacuolated lymphocytes |
|
|
|
|
13 / 7739
|
18
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
19
|
(HPO:0002074)
|
Increased neuronal autofluorescent lipopigment |
|
|
|
|
10 / 7739
|
20
|
(HPO:0002361)
|
Psychomotor deterioration |
|
|
|
|
26 / 7739
|
21
|
(HPO:0002505)
|
Progressive inability to walk |
|
|
|
|
2 / 7739
|
22
|
(HPO:0003205)
|
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
10 / 7739
|
23
|
(HPO:0003208)
|
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
8 / 7739
|
24
|
(HPO:0003463)
|
Increased extraneuronal autofluorescent lipopigment |
|
|
|
|
3 / 7739
|
25
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
26
|
(OMIM)
|
Autofluorescent lipopigment in neurons |
|
|
|
|
11 / 7739
|
27
|
(OMIM)
|
Difficulties in school |
|
|
|
|
2 / 7739
|
28
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
29
|
(OMIM)
|
Mood disturbances |
|
|
|
|
1 / 7739
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|