|
1
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
2
|
(HPO:0001332)
|
Dystonia |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
|
3
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
4
|
(HPO:0002072)
|
Chorea |
rare [HPO:skoehler]
|
|
|
|
53 / 7739
|
|
5
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
6
|
(HPO:0002305)
|
Athetosis |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
8
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
9
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|
|
10
|
(OMIM)
|
Lack of speech |
|
|
|
|
17 / 7739
|
|
11
|
(OMIM)
|
Intractable seizures |
|
|
|
|
12 / 7739
|
|
12
|
(OMIM)
|
Seizures, tonic |
|
|
|
|
3 / 7739
|
|
13
|
(OMIM)
|
EEG shows burst suppression pattern |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
Multifocal spike waves |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
16
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
17
|
(HPO:0010818)
|
Generalized tonic seizures |
|
|
|
|
8 / 7739
|