|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
5
|
(HPO:0002170)
|
Intracranial hemorrhage |
|
|
|
|
40 / 7739
|
|
6
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
|
7
|
(HPO:0002514)
|
Cerebral calcification |
|
|
|
|
89 / 7739
|
|
8
|
(HPO:0003011)
|
Abnormality of the musculature |
|
|
|
|
47 / 7739
|
|
9
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
|
10
|
(HPO:0006576)
|
Hepatic vascular malformations |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0007797)
|
Retinal vascular malformation |
|
|
|
|
2 / 7739
|