|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
|
5
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
6
|
(OMIM)
|
Seizures, tonic |
|
|
|
|
3 / 7739
|
|
7
|
(OMIM)
|
Clonic seizures |
|
|
|
|
3 / 7739
|
|
8
|
(OMIM)
|
Generalized stiffening |
|
|
|
|
1 / 7739
|
|
9
|
(MedDRA:10003830)
|
Automatism |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
11
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
12
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
13
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
14
|
(OMIM)
|
EEG shows burst suppression pattern |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
EEG shows multifocal epileptic activity |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Hyperintensities in the basal ganglia and/or thalamus Thin corpus callosum (in some patients) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Reduced posterior white matter volume (in some patients) |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
19
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
|
|
|
|
161 / 7739
|
|
20
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
21
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|