|
1
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
5
|
(HPO:0002132)
|
Porencephaly |
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0002170)
|
Intracranial hemorrhage |
|
|
|
|
40 / 7739
|
|
7
|
(HPO:0002301)
|
Hemiplegia |
|
|
|
|
42 / 7739
|
|
8
|
(OMIM)
|
Reduced white matter volume |
|
|
|
|
3 / 7739
|
|
9
|
(OMIM)
|
Structural brain anomalies |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
11
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
12
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|