|
1
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
3
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
5
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
6
|
(OMIM)
|
Seizures, tonic, hyperekplectic |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Seizures provoked by tactile stimulation or extreme emotion |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Seizures are poorly controlled |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Impaired psychomotor development |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
11
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
12
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|