|
1
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
6
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
7
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0002301)
|
Hemiplegia |
|
|
|
|
42 / 7739
|
|
9
|
(HPO:0200072)
|
Episodic quadriplegia |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0012194)
|
Episodic hemiplegia |
|
|
|
|
3 / 7739
|
|
11
|
(OMIM)
|
Autonomic involvement |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Interictal neurologic impairment |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
14
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|