|
1
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
2
|
(HPO:0001012)
|
Multiple lipomas |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
3
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
4
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
5
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
6
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
7
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
8
|
(HPO:0100026)
|
Arteriovenous malformation |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
9
|
(HPO:0100758)
|
Gangrene |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
10
|
(HPO:0100761)
|
Visceral angiomatosis |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
11
|
(HPO:0100764)
|
Lymphangioma |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0011276)
|
Vascular skin abnormality |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
13
|
(HPO:0002363)
|
Abnormality of brainstem morphology |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
14
|
(HPO:0011277)
|
Abnormality of the urinary system physiology |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
|
15
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
16
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
17
|
(HPO:0003474)
|
Sensory impairment |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
18
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
19
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
20
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|