|
1
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
2
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
6
|
(HPO:0002121)
|
Absence seizures |
|
|
|
|
62 / 7739
|
|
7
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
8
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
|
9
|
(HPO:0002384)
|
Focal seizures with impairment of consciousness or awareness |
|
|
|
|
17 / 7739
|
|
10
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
11
|
(HPO:0006813)
|
Hemiclonic seizures |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0100704)
|
Cortical visual impairment |
|
|
|
|
28 / 7739
|
|
13
|
(OMIM)
|
Generalized clonic or tonic-clonic seizures |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Psychomotor delay after second year |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
EEG may be normal at first |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
EEG later shows generalized spike or polyspike waves and focal spikes |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
EEG may show migrating focal or multifocal origin (in severe cases) |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
20
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
21
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|