|
1
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
3
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
4
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
5
|
(HPO:0000007)
|
Autosomal recessive inheritance |
rare [HPO:skoehler]
|
|
|
|
2538 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001270)
|
Motor delay |
rare [HPO:skoehler]
|
|
|
|
322 / 7739
|
|
8
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
9
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0002266)
|
Focal clonic seizures |
|
|
|
|
3 / 7739
|
|
11
|
(HPO:0002373)
|
Febrile seizures |
Occasional [HPO:probinson]
|
|
|
|
37 / 7739
|
|
12
|
(HPO:0002411)
|
Myokymia |
|
|
|
|
10 / 7739
|
|
13
|
(HPO:0003623)
|
Neonatal onset |
|
|
|
|
22 / 7739
|
|
14
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|