1
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
2
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
3
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
4
|
(HPO:0005293)
|
Venous insufficiency |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
5
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
6
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
7
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
8
|
(HPO:0100026)
|
Arteriovenous malformation |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
9
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
10
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
11
|
(HPO:0002204)
|
Pulmonary embolism |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
12
|
(HPO:0100559)
|
Lower limb asymmetry |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
13
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
14
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
15
|
(HPO:0002814)
|
Abnormality of the lower limb |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
16
|
(HPO:0004936)
|
Venous thrombosis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
17
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
18
|
(HPO:0002170)
|
Intracranial hemorrhage |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
19
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
20
|
(HPO:0000969)
|
Edema |
Occasional [Orphanet]
|
|
|
|
117 / 7739
|
21
|
(OMIM)
|
Multiple nevi flammei |
|
|
|
|
1 / 7739
|
22
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
23
|
(HPO:0030350)
|
Erythematous papule |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
24
|
(MedDRA:10025421)
|
Macule |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
25
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|