|
1
|
(HPO:0000639)
|
Nystagmus |
9/25 [HPO]
|
|
19659750
|
IBIS
|
555 / 7739
|
|
2
|
(HPO:0000726)
|
Dementia |
14/25 [HPO]
|
|
19659750
|
IBIS
|
131 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
12/25 [HPO]
|
|
19659750
|
IBIS
|
1245 / 7739
|
|
4
|
(HPO:0001251)
|
Ataxia |
25/25 [HPO]
|
|
19659750
|
IBIS
|
413 / 7739
|
|
5
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
6
|
(HPO:0001336)
|
Myoclonus |
6/25 [HPO]
|
|
19659750
|
IBIS
|
115 / 7739
|
|
7
|
(HPO:0002072)
|
Chorea |
7/25 [HPO]
|
|
19659750
|
IBIS
|
53 / 7739
|
|
8
|
(HPO:0007047)
|
Atrophy of the dentate nucleus |
hallmark [HPO]
|
|
20500452
|
IBIS
|
3 / 7739
|
|
9
|
(HPO:0007256)
|
Abnormal pyramidal signs |
5/25 [HPO]
|
|
19659750
|
IBIS
|
116 / 7739
|
|
10
|
(HPO:0010878)
|
Fetal cystic hygroma |
hallmark [HPO]
|
|
20500452
|
IBIS
|
3 / 7739
|
|
11
|
(OMIM)
|
Degeneration of the dentatorubral and pallidoluysian systems |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
13
|
(HPO:0003743)
|
Genetic anticipation |
|
|
|
|
9 / 7739
|