1
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
2
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
3
|
(HPO:0000790)
|
Hematuria |
|
|
|
|
106 / 7739
|
4
|
(HPO:0001028)
|
Hemangioma |
|
|
|
|
23 / 7739
|
5
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
6
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
|
|
|
|
97 / 7739
|
7
|
(HPO:0002277)
|
Horner syndrome |
|
|
|
|
7 / 7739
|
8
|
(OMIM)
|
Episodic hematuria |
|
|
|
|
1 / 7739
|
9
|
(OMIM)
|
Multiple dilated thin-walled cerebral vessels |
|
|
|
|
1 / 7739
|
10
|
(OMIM)
|
Spinal angioma |
|
|
|
|
1 / 7739
|
11
|
(OMIM)
|
Large irregular flat hemangiomas |
|
|
|
|
1 / 7739
|
12
|
(HPO:0012638)
|
Abnormality of nervous system physiology |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|