|
1
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
|
2
|
(HPO:0002200)
|
Pseudobulbar signs |
|
|
|
|
15 / 7739
|
|
3
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0000822)
|
Hypertension |
rare [HPO:skoehler]
|
|
|
|
224 / 7739
|
|
5
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
|
6
|
(HPO:0001123)
|
Visual field defect |
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
9
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
10
|
(HPO:0002076)
|
Migraine |
|
|
|
|
41 / 7739
|
|
11
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
12
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
13
|
(HPO:0002977)
|
Aplasia/Hypoplasia involving the central nervous system |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0007586)
|
Telangiectases producing 'marbled' skin |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0012377)
|
Hemianopia |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0012444)
|
Brain atrophy |
|
|
|
|
24 / 7739
|
|
17
|
(OMIM)
|
Leptomeningeal angiomatosis |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Distal tapering of the carotid, cerebellar, and meningeal arteries |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Prominent venous pattern |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Marbled skin due to telangiectasia |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Hypodensity of the white matter |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|