|
1
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
3
|
(HPO:0100659)
|
Abnormality of the cerebral vasculature |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
4
|
(HPO:0011276)
|
Vascular skin abnormality |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
5
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
6
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
7
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
|
8
|
(HPO:0005291)
|
Inflammatory arteriopathy |
|
|
|
|
2 / 7739
|