1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
2
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
3
|
(HPO:0000573)
|
Retinal hemorrhage |
|
|
|
|
13 / 7739
|
4
|
(HPO:0000790)
|
Hematuria |
|
|
|
|
106 / 7739
|
5
|
(HPO:0001136)
|
Retinal arteriolar tortuosity |
|
|
|
|
5 / 7739
|
6
|
(HPO:0001297)
|
Stroke |
rare [HPO:skoehler]
|
|
|
|
44 / 7739
|
7
|
(HPO:0002140)
|
Ischemic stroke |
|
|
|
|
70 / 7739
|
8
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
|
|
32 / 7739
|
9
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
10
|
(HPO:0004944)
|
Cerebral aneurysm |
|
|
|
|
12 / 7739
|
11
|
(HPO:0005115)
|
Supraventricular arrhythmia |
|
|
|
|
13 / 7739
|
12
|
(OMIM)
|
Aneurysms of right internal carotid artery, intracranial segment |
|
|
|
|
1 / 7739
|
13
|
(OMIM)
|
Aneurysm of right middle cerebral artery, horizontal segment |
|
|
|
|
1 / 7739
|
14
|
(HPO:0001063)
|
Acrocyanosis |
|
|
|
|
56 / 7739
|
15
|
(HPO:0002907)
|
Microscopic hematuria |
|
|
|
|
27 / 7739
|
16
|
(OMIM)
|
Hematuria, gross (in some patients) |
|
|
|
|
1 / 7739
|
17
|
(OMIM)
|
Renal failure, mild |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Basement membrane alterations in Bowman capsule, tubules, and interstitial capillaries, with irregular thickening, splitting into multiple layers, and electron-lucent areas |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Glomerular basement membrane normal |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Basement membrane duplications at dermoepidermal junction |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Dermal arteriole dissociation in vascular smooth muscle cells |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Basement membrane abnormally spread in vascular smooth muscle cells |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Capillary tortuosity in nail beds |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Leukoencephalopathy, periventricular |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Microvascular spaces, dilated |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Creatine kinase, serum, elevated |
|
|
|
|
1 / 7739
|
27
|
(HPO:0012213)
|
Decreased glomerular filtration rate |
|
|
|
|
21 / 7739
|
28
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
29
|
(HPO:0000112)
|
Nephropathy |
|
|
|
|
92 / 7739
|