|
1
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0000618)
|
Blindness |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0000646)
|
Amblyopia |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
5
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
6
|
(HPO:0000112)
|
Nephropathy |
|
|
|
|
92 / 7739
|
|
7
|
(HPO:0000488)
|
Retinopathy |
|
|
|
|
75 / 7739
|
|
8
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
9
|
(HPO:0007906)
|
Increased intraocular pressure |
|
|
|
|
30 / 7739
|
|
10
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
11
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
12
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
13
|
(HPO:0000573)
|
Retinal hemorrhage |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
|
15
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
16
|
(HPO:0000790)
|
Hematuria |
|
|
|
|
106 / 7739
|
|
17
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
|
18
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
|
19
|
(HPO:0100585)
|
Telangiectasia of the skin |
|
|
|
|
66 / 7739
|
|
20
|
(HPO:0001147)
|
Retinal exudate |
|
|
|
|
8 / 7739
|
|
21
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
22
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
23
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
|
24
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
|
|
|
|
158 / 7739
|
|
25
|
(HPO:0001297)
|
Stroke |
|
|
|
|
44 / 7739
|
|
26
|
(HPO:0002140)
|
Ischemic stroke |
|
|
|
|
70 / 7739
|
|
27
|
(HPO:0001413)
|
Micronodular cirrhosis |
|
|
|
|
11 / 7739
|
|
28
|
(HPO:0001437)
|
Abnormality of the musculature of the lower limbs |
|
|
|
|
4 / 7739
|
|
29
|
(HPO:0002076)
|
Migraine |
|
|
|
|
41 / 7739
|
|
30
|
(HPO:0002167)
|
Neurological speech impairment |
|
|
|
|
308 / 7739
|
|
31
|
(HPO:0002186)
|
Apraxia |
|
|
|
|
22 / 7739
|
|
32
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
33
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
34
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
35
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
36
|
(HPO:0002361)
|
Psychomotor deterioration |
|
|
|
|
26 / 7739
|
|
37
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
38
|
(HPO:0002395)
|
Lower limb hyperreflexia |
|
|
|
|
26 / 7739
|
|
39
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
|
|
|
|
24 / 7739
|
|
40
|
(HPO:0002637)
|
Cerebral ischemia |
|
|
|
|
17 / 7739
|
|
41
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
42
|
(HPO:0003565)
|
Elevated erythrocyte sedimentation rate |
|
|
|
|
31 / 7739
|
|
43
|
(HPO:0002301)
|
Hemiplegia |
|
|
|
|
42 / 7739
|
|
44
|
(HPO:0007009)
|
Central nervous system degeneration |
|
|
|
|
5 / 7739
|
|
45
|
(HPO:0007017)
|
Progressive forgetfulness |
|
|
|
|
4 / 7739
|
|
46
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
|
|
|
|
41 / 7739
|
|
47
|
(HPO:0009763)
|
Limb pain |
|
|
|
|
7 / 7739
|
|
48
|
(HPO:0100022)
|
Abnormality of movement |
|
|
|
|
129 / 7739
|
|
49
|
(HPO:0200029)
|
Vasculitis in the skin |
|
|
|
|
6 / 7739
|
|
50
|
(HPO:0200030)
|
Punctate vasculitis skin lesions |
|
|
|
|
4 / 7739
|
|
51
|
(OMIM)
|
Retinal vasculopathy |
|
|
|
|
5 / 7739
|
|
52
|
(OMIM)
|
Macular edema |
|
|
|
|
6 / 7739
|
|
53
|
(OMIM)
|
Microangiopathic telangiectasia |
|
|
|
|
4 / 7739
|
|
54
|
(OMIM)
|
Microaneurysms |
|
|
|
|
4 / 7739
|
|
55
|
(HPO:0001063)
|
Acrocyanosis |
|
|
|
|
56 / 7739
|
|
56
|
(OMIM)
|
Glomerular dysfunction (variable) |
|
|
|
|
4 / 7739
|
|
57
|
(OMIM)
|
Poor concentration |
|
|
|
|
5 / 7739
|
|
58
|
(OMIM)
|
Periventricular white matter lesions |
|
|
|
|
4 / 7739
|
|
59
|
(OMIM)
|
Subcortical lesions with edema |
|
|
|
|
4 / 7739
|
|
60
|
(OMIM)
|
Pseudotumors |
|
|
|
|
4 / 7739
|