|
1
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
2
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
3
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0000751)
|
Personality changes |
|
|
|
|
33 / 7739
|
|
5
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
6
|
(HPO:0002063)
|
Rigidity |
Occasional [HPO:probinson]
|
|
|
|
92 / 7739
|
|
7
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
8
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
9
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
10
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
|
|
37 / 7739
|
|
11
|
(OMIM)
|
Oral motor dysfunction (juvenile form) |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
13
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
14
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
15
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
16
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
17
|
(OMIM)
|
Neuronal loss and gliosis in caudate and putamen |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|