|
1
|
(HPO:0000729)
|
Autistic behavior |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
|
2
|
(HPO:0000992)
|
Cutaneous photosensitivity |
rare [HPO:skoehler]
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0002121)
|
Absence seizures |
|
|
|
|
62 / 7739
|
|
6
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
7
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
|
8
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
9
|
(HPO:0002373)
|
Febrile seizures |
|
|
|
|
37 / 7739
|
|
10
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
11
|
(HPO:0010819)
|
Atonic seizures |
|
|
|
|
18 / 7739
|
|
12
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|
|
13
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
14
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|