|
1
|
(HPO:0000643)
|
Blepharospasm |
|
|
|
|
20 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
Rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001312)
|
Giant somatosensory evoked potentials |
|
|
|
|
4 / 7739
|
|
4
|
(HPO:0001326)
|
EEG with irregular generalized spike and wave complexes |
|
|
|
|
3 / 7739
|
|
5
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
6
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
7
|
(HPO:0001340)
|
Enhancement of the C-reflex |
|
|
|
|
5 / 7739
|
|
8
|
(HPO:0001351)
|
Jerk-locked premyoclonus spikes |
|
|
|
|
5 / 7739
|
|
9
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0010852)
|
EEG with photoparoxysmal response |
|
|
|
|
7 / 7739
|
|
11
|
(OMIM)
|
Involuntary rhythmic myoclonic movements ('tremor') of the distal extremities, usually fingers |
|
|
|
|
3 / 7739
|
|
12
|
(OMIM)
|
Movements ('tremors') characterized by 8 to 10-Hz discharges |
|
|
|
|
3 / 7739
|
|
13
|
(OMIM)
|
Generalized tonic-clonic seizures (GTCS), infrequent |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Mental retardation has been reported |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
EEG shows generalized and focal spike and wave complexes |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Electrophysiologic studies indicate cortical origin |
|
|
|
|
3 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
18
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
19
|
(HPO:0003680)
|
Nonprogressive disorder |
|
|
|
|
23 / 7739
|
|
20
|
(HPO:0100543)
|
Cognitive impairment |
rare [HPO:skoehler]
|
|
|
|
230 / 7739
|