|
1
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
|
2
|
(HPO:0000717)
|
Autism |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
3
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
4
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
5
|
(HPO:0000610)
|
Abnormality of the choroid |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
|
6
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
7
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
Occasional [Orphanet]
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
10
|
(HPO:0000541)
|
Retinal detachment |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
12
|
(HPO:0002514)
|
Cerebral calcification |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
13
|
(HPO:0100659)
|
Abnormality of the cerebral vasculature |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
14
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
15
|
(HPO:0000329)
|
Facial hemangioma |
|
|
|
|
5 / 7739
|
|
16
|
(HPO:0000557)
|
Buphthalmos |
|
|
|
|
16 / 7739
|
|
17
|
(HPO:0002167)
|
Neurological speech impairment |
|
|
|
|
308 / 7739
|
|
18
|
(HPO:0007872)
|
Choroidal hemangioma |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
|
|
|
|
41 / 7739
|
|
20
|
(HPO:0012222)
|
Arachnoid hemangiomatosis |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Hemangiomata in at least first branch (ophthalmic) of trigeminal nerve distribution, unilateral, occasionally bilateral |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Arachnoid hemangiomata |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
'Double contour' convolutional calcification on CT scan |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
25
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
26
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
27
|
(HPO:0001131)
|
Corneal dystrophy |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
28
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
29
|
(HPO:0000752)
|
Hyperactivity |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
30
|
(HPO:0000598)
|
Abnormality of the ear |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
31
|
(HPO:0000168)
|
Abnormality of the gingiva |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
32
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
33
|
(HPO:0001100)
|
Heterochromia iridis |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
34
|
(HPO:0002308)
|
Arnold-Chiari malformation |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
35
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
|
36
|
(HPO:0000524)
|
Conjunctival telangiectasia |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
37
|
(HPO:0002140)
|
Ischemic stroke |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
38
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
39
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|