|
1
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0000726)
|
Dementia |
rare [HPO:skoehler]
|
|
|
|
131 / 7739
|
|
3
|
(HPO:0001300)
|
Parkinsonism |
rare [HPO:skoehler]
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0002076)
|
Migraine |
rare [HPO:skoehler]
|
|
|
|
41 / 7739
|
|
5
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
|
6
|
(OMIM)
|
Impaired executive function (in some patients) |
|
|
|
|
1 / 7739
|
|
7
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
8
|
(HPO:0100308)
|
Cerebral cortical hemiatrophy |
|
|
|
|
7 / 7739
|
|
9
|
(OMIM)
|
Subcortical and periventricular white matter abnormalities seen on MRI (in some patients) |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
11
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|