1
|
(HPO:0000726)
|
Dementia |
Very frequent [IBIS]
|
|
21045164
|
IBIS
|
131 / 7739
|
2
|
(HPO:0002077)
|
Migraine with aura |
Frequent [IBIS]
|
|
21045164
|
IBIS
|
14 / 7739
|
3
|
(HPO:0000716)
|
Depression |
Occasional [IBIS]
Very frequent [Orphanet]
|
20% (n=45)
|
7564728
|
IBIS
|
99 / 7739
|
4
|
(HPO:0001575)
|
Mood changes |
Occasional [IBIS]
|
20% (n=45)
|
7564728
|
IBIS
|
7 / 7739
|
5
|
(HPO:0007359)
|
Focal seizures |
Occasional [IBIS]
|
|
21045164
|
IBIS
|
27 / 7739
|
6
|
(HPO:0002197)
|
Generalized seizures |
Occasional [IBIS]
|
|
21045164
|
IBIS
|
30 / 7739
|
7
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
Occasional [Orphanet]
occasional [HPO]
|
|
15827866
|
IBIS
|
62 / 7739
|
8
|
(HPO:0007178)
|
Motor polyneuropathy |
Occasional [Orphanet]
occasional [HPO]
|
|
19488673
|
IBIS
|
31 / 7739
|
9
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Occasional [Orphanet]
|
|
15727650
|
IBIS
|
50 / 7739
|
10
|
(HPO:0000737)
|
Irritability |
Very frequent [Orphanet]
|
|
15819734
|
IBIS
|
93 / 7739
|
11
|
(HPO:0000739)
|
Anxiety |
Very frequent [Orphanet]
|
|
23355563
|
IBIS
|
67 / 7739
|
12
|
(HPO:0000741)
|
Apathy |
Very frequent [Orphanet]
|
|
20301673
|
IBIS
|
42 / 7739
|
13
|
(HPO:0000505)
|
Visual impairment |
Frequent [Orphanet]
|
|
16193254
|
IBIS
|
297 / 7739
|
14
|
(HPO:0001257)
|
Spasticity |
Frequent [Orphanet]
|
|
11458185
|
IBIS
|
251 / 7739
|
15
|
(HPO:0002619)
|
Varicose veins |
Occasional [Orphanet]
|
|
16864835
|
IBIS
|
11 / 7739
|
16
|
(HPO:0005293)
|
Venous insufficiency |
Occasional [Orphanet]
|
|
16864835
|
IBIS
|
27 / 7739
|
17
|
(HPO:0002076)
|
Migraine |
Very frequent [Orphanet]
|
|
21409506
|
IBIS
|
41 / 7739
|
18
|
(HPO:0002315)
|
Headache |
Very frequent [Orphanet]
|
|
19207299
|
IBIS
|
175 / 7739
|
19
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
20301673
|
IBIS
|
212 / 7739
|
20
|
(HPO:0002621)
|
Atherosclerosis |
Occasional [Orphanet]
|
|
21178349
|
IBIS
|
33 / 7739
|
21
|
(HPO:0001268)
|
Mental deterioration |
Very frequent [Orphanet]
hallmark [HPO]
|
|
16421111
|
IBIS
|
88 / 7739
|
22
|
(HPO:0002361)
|
Psychomotor deterioration |
Very frequent [Orphanet]
hallmark [HPO]
|
|
23355563
|
IBIS
|
26 / 7739
|
23
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
25870789
|
IBIS
|
188 / 7739
|
24
|
(HPO:0001297)
|
Stroke |
Frequent [Orphanet]
|
|
17726918
|
IBIS
|
44 / 7739
|
25
|
(HPO:0002140)
|
Ischemic stroke |
Frequent [Orphanet]
|
|
20301673
|
IBIS
|
70 / 7739
|
26
|
(HPO:0002326)
|
Transient ischemic attack |
Frequent [Orphanet]
|
|
9818928
|
IBIS
|
13 / 7739
|
27
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
16643314
|
IBIS
|
187 / 7739
|
28
|
(HPO:0100308)
|
Cerebral cortical hemiatrophy |
Frequent [Orphanet]
|
|
22000857
|
IBIS
|
7 / 7739
|
29
|
(HPO:0002354)
|
Memory impairment |
Frequent [Orphanet]
|
|
20301673
|
IBIS
|
63 / 7739
|
30
|
(HPO:0006824)
|
Cranial nerve paralysis |
Frequent [Orphanet]
|
|
17726918
|
IBIS
|
81 / 7739
|
31
|
(HPO:0010628)
|
Facial palsy |
Frequent [Orphanet]
typical [HPO]
|
|
25834748
|
IBIS
|
146 / 7739
|
32
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
15829071
|
IBIS
|
539 / 7739
|
33
|
(HPO:0011947)
|
Respiratory tract infection |
Occasional [Orphanet]
occasional [HPO]
|
|
15364702
|
IBIS
|
28 / 7739
|
34
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
Occasional [Orphanet]
|
|
18258841
|
IBIS
|
76 / 7739
|
35
|
(MedDRA:10063750)
|
Life expectancy shortened |
Occasional [Orphanet]
|
|
15364702
|
IBIS
|
4 / 7739
|
36
|
(HPO:0000822)
|
Hypertension |
Occasional [Orphanet]
|
|
25109394
|
IBIS
|
224 / 7739
|
37
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
20301673
|
IBIS
|
318 / 7739
|
38
|
(HPO:0001269)
|
Hemiparesis |
Very frequent [Orphanet]
hallmark [HPO]
|
|
20301673
|
IBIS
|
51 / 7739
|
39
|
(HPO:0002301)
|
Hemiplegia |
Very frequent [Orphanet]
hallmark [HPO]
|
|
15798438
|
IBIS
|
42 / 7739
|
40
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
20301673
|
IBIS
|
158 / 7739
|
41
|
(HPO:0001259)
|
Coma |
Very frequent [Orphanet]
|
|
12531961
|
IBIS
|
65 / 7739
|
42
|
(HPO:0001289)
|
Confusion |
Very frequent [Orphanet]
|
|
20123231
|
IBIS
|
36 / 7739
|
43
|
(HPO:0002329)
|
Drowsiness |
Very frequent [Orphanet]
|
|
12531961
|
IBIS
|
19 / 7739
|
44
|
(HPO:0002133)
|
Status epilepticus |
Occasional [Orphanet]
|
|
20301673
|
IBIS
|
59 / 7739
|
45
|
(HPO:0007763)
|
Retinal telangiectasia |
Very frequent [Orphanet]
|
|
23635925
|
IBIS
|
6 / 7739
|
46
|
(HPO:0001945)
|
Fever |
Very frequent [Orphanet]
|
|
12531961
|
IBIS
|
218 / 7739
|
47
|
(HPO:0002300)
|
Mutism |
Very frequent [Orphanet]
|
|
20464302
|
IBIS
|
28 / 7739
|
48
|
(HPO:0002357)
|
Dysphasia |
Very frequent [Orphanet]
|
|
16796821
|
IBIS
|
33 / 7739
|
49
|
(HPO:0002381)
|
Aphasia |
Very frequent [Orphanet]
|
|
19369672
|
IBIS
|
27 / 7739
|
50
|
(HPO:0001342)
|
Cerebral hemorrhage |
Occasional [Orphanet]
occasional [HPO]
|
|
24344756
|
IBIS
|
24 / 7739
|
51
|
(HPO:0002170)
|
Intracranial hemorrhage |
Occasional [Orphanet]
|
|
17135568
|
IBIS
|
40 / 7739
|
52
|
(HPO:0001943)
|
Hypoglycemia |
Occasional [Orphanet]
|
|
12791811
|
IBIS
|
131 / 7739
|
53
|
(HPO:0100576)
|
Amaurosis fugax |
Very frequent [Orphanet]
|
|
14687018
|
IBIS
|
13 / 7739
|
54
|
(HPO:0000020)
|
Urinary incontinence |
|
|
20301673
|
IBIS
|
75 / 7739
|
55
|
(HPO:0000512)
|
Abnormal electroretinogram |
|
|
15313839
|
IBIS
|
61 / 7739
|
56
|
(HPO:0000572)
|
Visual loss |
|
|
23635925
|
IBIS
|
272 / 7739
|
57
|
(HPO:0000618)
|
Blindness |
|
|
23635925
|
IBIS
|
124 / 7739
|
58
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
|
|
15096408
|
IBIS
|
34 / 7739
|
59
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
10463351
|
IBIS
|
147 / 7739
|
60
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
16717212
|
IBIS
|
308 / 7739
|
61
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
20301673
|
IBIS
|
32 / 7739
|
62
|
(HPO:0002637)
|
Cerebral ischemia |
Frequent [Orphanet]
|
|
21345538
|
IBIS
|
17 / 7739
|
63
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Very frequent [Orphanet]
|
|
12531961
|
IBIS
|
58 / 7739
|
64
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Very frequent [Orphanet]
|
|
11810186
|
IBIS
|
73 / 7739
|
65
|
(HPO:0007024)
|
Pseudobulbar paralysis |
|
|
25834748
|
IBIS
|
7 / 7739
|
66
|
(HPO:0007123)
|
Subcortical dementia |
|
|
23308019
|
IBIS
|
1 / 7739
|
67
|
(HPO:0007236)
|
Recurrent subcortical infarcts |
|
|
20301673
|
IBIS
|
2 / 7739
|
68
|
(HPO:0007634)
|
Nonarteritic anterior ischemic optic neuropathy |
|
|
15096408
|
IBIS
|
2 / 7739
|
69
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
Very frequent [Orphanet]
|
|
15313839
|
IBIS
|
41 / 7739
|
70
|
(OMIM)
|
Vasculopathy of the small arteries penetrating the white matter |
|
|
8418535
|
IBIS
|
1 / 7739
|
71
|
(OMIM)
|
Affected arteries have electron-dense granular material close to vascular smooth muscle cell membranes |
|
|
7732783
|
IBIS
|
1 / 7739
|
72
|
(OMIM)
|
Biopsy shows granular osmiophilic material of variable electron density adjacent to basal membrane of vascular smooth muscle cell |
|
|
17620550
|
IBIS
|
1 / 7739
|
73
|
(OMIM)
|
Patients 20-30 years old have hyperintense lesions on T2-weighted MRI in the frontal and anterior temporal lobes |
|
|
14593195
|
IBIS
|
1 / 7739
|
74
|
(OMIM)
|
Patients 30-40 years old have hyperintense lesions in periventricular areas, the external capsule, basal ganglia, thalamus, and brainstem |
|
|
14593195
|
IBIS
|
1 / 7739
|
75
|
(OMIM)
|
Patients older than 50 years have hyperintensities, lacunar infarcts, and microbleeds |
|
|
17620550
|
IBIS
|
1 / 7739
|
76
|
(HPO:0100543)
|
Cognitive impairment |
|
|
20301673
|
IBIS
|
230 / 7739
|
77
|
(HPO:0007204)
|
Diffuse white matter abnormalities |
|
|
20301673
|
IBIS
|
2 / 7739
|
78
|
(HPO:0003657)
|
Granular osmiophilic deposits (GROD) in cells |
|
|
20301673
|
IBIS
|
3 / 7739
|
79
|
(HPO:0001270)
|
Motor delay |
|
|
20301673
|
IBIS
|
322 / 7739
|
80
|
(HPO:0001138)
|
Optic neuropathy |
|
|
16193254
|
IBIS
|
12 / 7739
|
81
|
(HPO:0007108)
|
Demyelinating peripheral neuropathy |
|
|
15827866
|
IBIS
|
8 / 7739
|
82
|
(HPO:0001300)
|
Parkinsonism |
|
|
19542611
|
IBIS
|
75 / 7739
|
83
|
(HPO:0001260)
|
Dysarthria |
|
|
16864835
|
IBIS
|
329 / 7739
|
84
|
(HPO:0002015)
|
Dysphagia |
|
|
16864835
|
IBIS
|
301 / 7739
|
85
|
(HPO:0001310)
|
Dysmetria |
|
|
22218279
|
IBIS
|
76 / 7739
|
86
|
(MedDRA:10008398)
|
Change in sustained attention |
|
|
10371078
|
IBIS
|
1 / 7739
|
87
|
(HPO:0002445)
|
Tetraplegia |
|
|
8418535
|
IBIS
|
26 / 7739
|
88
|
(HPO:0007162)
|
Diffuse demyelination of the cerebral white matter |
|
|
8418535
|
IBIS
|
3 / 7739
|
89
|
(MedDRA:10072809)
|
Arterial wall hypertrophy |
|
|
8418535
|
IBIS
|
1 / 7739
|
90
|
(OMIM)
|
MRI shows T2-weighted signals in the basal ganglia |
|
|
7564728
|
IBIS
|
4 / 7739
|
91
|
(MedDRA:10019476)
|
Hemiplegic migraine |
|
|
8418535
|
IBIS
|
2 / 7739
|
92
|
(MedDRA:10072731)
|
White matter lesion |
|
|
8418535
|
IBIS
|
7 / 7739
|
93
|
(HPO:0006799)
|
Basal ganglia cysts |
|
|
9541301
|
IBIS
|
6 / 7739
|
94
|
(HPO:0007305)
|
CNS demyelination |
|
|
9541301
|
IBIS
|
21 / 7739
|
95
|
(OMIM)
|
Hyaline thickening of cerebral arteries |
|
|
9541301
|
IBIS
|
7 / 7739
|
96
|
(HPO:0002067)
|
Bradykinesia |
|
|
9541301
|
IBIS
|
62 / 7739
|
97
|
(HPO:0002078)
|
Truncal ataxia |
|
|
9541301
|
IBIS
|
41 / 7739
|
98
|
(HPO:0001347)
|
Hyperreflexia |
|
|
9541301
|
IBIS
|
363 / 7739
|
99
|
(HPO:0000587)
|
Abnormality of the optic nerve |
|
|
15313839
|
IBIS
|
5 / 7739
|
100
|
(OMIM)
|
Narrowing of retinal vessels |
|
|
15313839
|
IBIS
|
3 / 7739
|
101
|
(MedDRA:10051078)
|
Lacunar infarction |
|
|
14593195
|
IBIS
|
1 / 7739
|
102
|
(HPO:0012444)
|
Brain atrophy |
|
|
16717211
|
IBIS
|
24 / 7739
|
103
|
(HPO:0000709)
|
Psychosis |
|
|
10371078
|
IBIS
|
61 / 7739
|
104
|
(MedDRA:10027939)
|
Mood alterations with manic symptoms |
|
|
21045164
|
IBIS
|
1 / 7739
|