|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0002357)
|
Dysphasia |
|
|
|
|
33 / 7739
|
|
7
|
(HPO:0002381)
|
Aphasia |
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
9
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
|
10
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
|
11
|
(HPO:0010524)
|
Agnosia |
|
|
|
|
6 / 7739
|
|
12
|
(HPO:0011098)
|
Speech apraxia |
|
|
|
|
9 / 7739
|
|
13
|
(HPO:0012557)
|
EEG with centrotemporal focal spike waves |
|
|
|
|
2 / 7739
|