|
1
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
2
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
5
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
6
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
7
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
8
|
(HPO:0002074)
|
Increased neuronal autofluorescent lipopigment |
|
|
|
|
10 / 7739
|
|
9
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
|
|
32 / 7739
|
|
10
|
(HPO:0002367)
|
Visual hallucinations |
|
|
|
|
8 / 7739
|
|
11
|
(HPO:0003205)
|
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
10 / 7739
|
|
12
|
(HPO:0003208)
|
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
8 / 7739
|
|
13
|
(HPO:0003226)
|
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0003657)
|
Granular osmiophilic deposits (GROD) in cells |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0008765)
|
Auditory hallucinations |
|
|
|
|
8 / 7739
|
|
16
|
(OMIM)
|
Autofluorescent lipopigment in neurons |
|
|
|
|
11 / 7739
|
|
17
|
(OMIM)
|
Leukoencephalopathy on CT and MRI |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
|
19
|
(OMIM)
|
Auditory and visual hallucinations |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Granular osmiophilic deposits (GROD) in cells resulting in 'fingerprint' profiles ultrastructurally |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Granular osmiophilic deposits (GROD) in cells resulting in 'curvilinear' profiles ultrastructurally |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Granular osmiophilic deposits (GROD) in cells resulting in 'Rectilinear' profiles ultrastructurally |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|