|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
4
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
5
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0012194)
|
Episodic hemiplegia |
|
|
|
|
3 / 7739
|
|
7
|
(HPO:0200072)
|
Episodic quadriplegia |
|
|
|
|
4 / 7739
|
|
8
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
9
|
(OMIM)
|
Upward eye deviation during episodes |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Autonomic involvement affecting limbs during episodes |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Generalized tonic-clonic seizures in 50% |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Neurologic regression after prolonged episodes |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Headache is usually not a symptom |
|
|
|
|
1 / 7739
|