|
1
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001337)
|
Tremor |
Very frequent [Orphanet]
|
|
|
|
200 / 7739
|
|
3
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
4
|
(HPO:0004305)
|
Involuntary movements |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
5
|
(HPO:0100576)
|
Amaurosis fugax |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
|
6
|
(HPO:0002315)
|
Headache |
Occasional [Orphanet]
|
|
|
|
175 / 7739
|
|
7
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
8
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
Rare [HPO:curators]
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0001312)
|
Giant somatosensory evoked potentials |
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0001326)
|
EEG with irregular generalized spike and wave complexes |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0001340)
|
Enhancement of the C-reflex |
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0001351)
|
Jerk-locked premyoclonus spikes |
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
15
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
16
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
17
|
(HPO:0003680)
|
Nonprogressive disorder |
|
|
|
|
23 / 7739
|
|
18
|
(HPO:0010852)
|
EEG with photoparoxysmal response |
|
|
|
|
7 / 7739
|