|
1
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0011276)
|
Vascular skin abnormality |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
3
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
4
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
|
5
|
(HPO:0012090)
|
Abnormality of pancreas morphology |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
6
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
7
|
(HPO:0100585)
|
Telangiectasia of the skin |
Frequent [Orphanet]
|
|
|
|
66 / 7739
|
|
8
|
(HPO:0001052)
|
Nevus flammeus |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
9
|
(HPO:0000238)
|
Hydrocephalus |
Frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
10
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
|
11
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
12
|
(HPO:0002321)
|
Vertigo |
|
|
|
|
58 / 7739
|
|
13
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
14
|
(HPO:0001737)
|
Pancreatic cysts |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
15
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
16
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
17
|
(HPO:0002666)
|
Pheochromocytoma |
|
|
|
|
9 / 7739
|
|
18
|
(HPO:0002668)
|
Paraganglioma |
|
|
|
|
7 / 7739
|
|
19
|
(HPO:0100026)
|
Arteriovenous malformation |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
20
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
21
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
22
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
23
|
(HPO:0000541)
|
Retinal detachment |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
24
|
(HPO:0000822)
|
Hypertension |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
25
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
26
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
27
|
(HPO:0002516)
|
Increased intracranial pressure |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
28
|
(HPO:0100763)
|
Abnormality of the lymphatic system |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
29
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
30
|
(HPO:0002017)
|
Nausea and vomiting |
Frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
31
|
(HPO:0100659)
|
Abnormality of the cerebral vasculature |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
32
|
(HPO:0009726)
|
Renal neoplasm |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
33
|
(HPO:0100761)
|
Visceral angiomatosis |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
34
|
(HPO:0000360)
|
Tinnitus |
|
|
|
|
29 / 7739
|
|
35
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
|
|
28 / 7739
|
|
36
|
(HPO:0001901)
|
Polycythemia |
|
|
|
|
16 / 7739
|
|
37
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
38
|
(HPO:0002894)
|
Neoplasm of the pancreas |
|
|
|
|
17 / 7739
|
|
39
|
(HPO:0005562)
|
Multiple renal cysts |
|
|
|
|
16 / 7739
|
|
40
|
(HPO:0005584)
|
Renal cell carcinoma |
|
|
|
|
13 / 7739
|
|
41
|
(HPO:0005954)
|
Pulmonary capillary hemangiomatosis |
|
|
|
|
2 / 7739
|
|
42
|
(HPO:0006880)
|
Cerebellar hemangioblastoma |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
44
|
(HPO:0009711)
|
Retinal capillary hemangioma |
|
|
|
|
2 / 7739
|
|
45
|
(HPO:0009713)
|
Spinal hemangioblastoma |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0009715)
|
Papillary cystadenoma of the epididymis |
|
|
|
|
3 / 7739
|
|
47
|
(HPO:0100634)
|
Neuroendocrine neoplasm |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
|
48
|
(OMIM)
|
Endolymphatic sac tumors (ELSTs) |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Hearing loss, sensorineural, associated with ELSTs |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Retinal angioma |
|
|
|
|
2 / 7739
|
|
51
|
(OMIM)
|
Liver hemangiomas |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Pancreatic hemangioblastoma |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Bilateral papillary cystadenoma of the epididymis |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Bilateral papillary cystadenomas of the broad ligament |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Epididymal cyst |
|
|
|
|
2 / 7739
|
|
56
|
(OMIM)
|
Renal hemangioblastoma |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Spinal cord hemangioblastoma |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Adrenal hemangiomas |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Adenocarcinoma of ampulla of Vater |
|
|
|
|
1 / 7739
|
|
60
|
(HPO:0000077)
|
Abnormality of the kidney |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
61
|
(HPO:0100742)
|
Vascular neoplasm |
Very frequent [Orphanet]
|
|
|
|
3 / 7739
|
|
62
|
(HPO:0001357)
|
Plagiocephaly |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
63
|
(HPO:0040096)
|
Neoplasm of the inner ear |
Occasional [Orphanet]
|
|
|
|
1 / 7739
|
|
64
|
(HPO:0003474)
|
Sensory impairment |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
65
|
(HPO:0000107)
|
Renal cyst |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
66
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
67
|
(HPO:0008059)
|
Aplasia/Hypoplasia of the macula |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
|
68
|
(HPO:0100735)
|
Hypertensive crisis |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
|
69
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
70
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
71
|
(HPO:0030424)
|
Epididymal cyst |
|
|
|
|
1 / 7739
|