1
|
(HPO:0000733)
|
Stereotypy |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
2
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
3
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
4
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
5
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
6
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
7
|
(HPO:0002197)
|
Generalized seizures |
|
|
|
|
30 / 7739
|
8
|
(HPO:0002268)
|
Paroxysmal dystonia |
|
|
|
|
11 / 7739
|
9
|
(HPO:0002372)
|
Normal interictal EEG |
|
|
|
|
5 / 7739
|
10
|
(HPO:0007098)
|
Paroxysmal choreoathetosis |
|
|
|
|
6 / 7739
|
11
|
(HPO:0007359)
|
Focal seizures |
|
|
|
|
27 / 7739
|
12
|
(OMIM)
|
Secondary generalization may occur |
|
|
|
|
2 / 7739
|
13
|
(OMIM)
|
Seizures occur in clusters |
|
|
|
|
4 / 7739
|
14
|
(OMIM)
|
Seizures often begin with head and eye deviation |
|
|
|
|
1 / 7739
|
15
|
(OMIM)
|
Involuntary movements may be precipitated by exertion or anxiety |
|
|
|
|
1 / 7739
|
16
|
(OMIM)
|
Normal psychomotor development |
|
|
|
|
8 / 7739
|
17
|
(HPO:0004305)
|
Involuntary movements |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
18
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
20
|
(HPO:0040168)
|
Focal seizures, afebril |
|
|
|
|
6 / 7739
|