|
1
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
2
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
3
|
(HPO:0002373)
|
Febrile seizures |
|
|
|
|
37 / 7739
|
|
4
|
(HPO:0007359)
|
Focal seizures |
|
|
|
|
27 / 7739
|
|
5
|
(OMIM)
|
Delayed motor and speech development, mild (1 family) |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Myoclonic seizures, frequent, long-lasting (many hours) |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Ictal EEG with bisynchronous spike waves |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
10
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
11
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
12
|
(OMIM)
|
Dysarthria, mild |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Brain MRI shows abnormal cortical thickening in the anteromesial frontal areas (1 family) |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
15
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
16
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|