|
1
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
2
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
3
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
6
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
|
|
37 / 7739
|
|
7
|
(OMIM)
|
Pachygyria, bilateral frontotemporal |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0002373)
|
Febrile seizures |
|
|
|
|
37 / 7739
|
|
9
|
(OMIM)
|
Neuromuscular tone slightly decreased |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Deep tendon reflexes slightly decreased |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|