|
1
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
2
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
4
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
5
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
|
6
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
7
|
(HPO:0000751)
|
Personality changes |
|
|
|
|
33 / 7739
|
|
8
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
9
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
10
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
11
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
12
|
(OMIM)
|
Atrophy of hippocampal dentate gyrus |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Alpha-B-crystallin expression in oligodendrocytes |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|