|
1
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
2
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
Variable [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
Common [HPO:probinson]
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0002121)
|
Absence seizures |
|
|
|
|
62 / 7739
|
|
7
|
(HPO:0011147)
|
Typical absence seizures |
|
|
|
|
33 / 7739
|
|
8
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
9
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
|
10
|
(HPO:0007359)
|
Focal seizures |
|
|
|
|
27 / 7739
|
|
11
|
(HPO:0010819)
|
Atonic seizures |
|
|
|
|
18 / 7739
|
|
12
|
(OMIM)
|
Delayed development, variable severity, from birth in some patients |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Developmental regression in about 50% of patients |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Normal development in some patients |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
16
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
17
|
(OMIM)
|
Obsessive features |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Carrier males show rigid personality |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Carrier males show obsessive features |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Carrier males show controlling and inflexible traits |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Seizures often associated with fever (63%) |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
23
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|