|
1
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
2
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
3
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
4
|
(HPO:0002121)
|
Absence seizures |
|
|
|
|
62 / 7739
|
|
5
|
(HPO:0011147)
|
Typical absence seizures |
|
|
|
|
33 / 7739
|
|
6
|
(OMIM)
|
Visual blackouts (stage 1) |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
EEG - polyspike on photic stimulation (stage 1) |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Stimulation sensitive segmental myoclonus (stage 2) |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Stimulation sensitive generalized myoclonus (stage 3) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Minor motor impairment (stage 2) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Intermittent wheelchair dependence (stage 3) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
EEG - alpha slowing, 4-6 Hz spike waves, myoclonus on photic stimulation (stage 2) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
EEG - alpha abolished, continuous spike waves, intense myoclonus on photic stimulation (stage 3) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Action myoclonus |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Mild mental deterioration |
|
|
|
|
1 / 7739
|