|
1
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
3
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
Rare [HPO:skoehler]
|
|
|
|
298 / 7739
|
|
4
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
5
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
6
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
7
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
8
|
(HPO:0000729)
|
Autistic behavior |
|
|
|
|
27 / 7739
|
|
9
|
(HPO:0007359)
|
Focal seizures |
|
|
|
|
27 / 7739
|
|
10
|
(OMIM)
|
Partial epilepsy |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
12
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
13
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|