|
1
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
2
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
rare [HPO:skoehler]
|
|
|
|
96 / 7739
|
|
3
|
(OMIM)
|
Vision loss, episodic |
|
|
|
|
1 / 7739
|
|
4
|
(OMIM)
|
Diminished visual acuity |
|
|
|
|
2 / 7739
|
|
5
|
(OMIM)
|
Strabismus, transient (1 patient) |
|
|
|
|
1 / 7739
|
|
6
|
(HPO:0002121)
|
Absence seizures |
|
|
|
|
62 / 7739
|
|
7
|
(HPO:0011147)
|
Typical absence seizures |
|
|
|
|
33 / 7739
|
|
8
|
(OMIM)
|
Autonomic symptoms |
|
|
|
|
6 / 7739
|
|
9
|
(OMIM)
|
Pachygyria, occipital |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Polymicrogyria, occipital |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
13
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|