|
1
|
(HPO:0000729)
|
Autistic behavior |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
3
|
(OMIM)
|
Seizure, focal or multifocal onset |
|
|
|
|
1 / 7739
|
|
4
|
(MedDRA:10043209)
|
Temporal lobe epilepsy |
|
|
|
|
3 / 7739
|
|
5
|
(OMIM)
|
Parietal lobe epilepsy |
|
|
|
|
1 / 7739
|
|
6
|
(MedDRA:10049424)
|
Frontal lobe epilepsy |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Secondary generalization |
|
|
|
|
3 / 7739
|
|
8
|
(OMIM)
|
Nocturnal seizures |
|
|
|
|
3 / 7739
|
|
9
|
(HPO:0011157)
|
Auras |
|
|
|
|
2 / 7739
|
|
10
|
(MedDRA:10003830)
|
Automatism |
|
|
|
|
4 / 7739
|
|
11
|
(OMIM)
|
Abnormal interictal EEG (in some patients) |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
13
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
14
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|