1
|
(HPO:0000098)
|
Tall stature |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
4
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
5
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
6
|
(HPO:0000790)
|
Hematuria |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
7
|
(HPO:0000965)
|
Cutis marmorata |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
8
|
(HPO:0000995)
|
Melanocytic nevus |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
9
|
(HPO:0001004)
|
Lymphedema |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
10
|
(HPO:0001012)
|
Multiple lipomas |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
11
|
(HPO:0001048)
|
Cavernous hemangioma |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
12
|
(HPO:0001161)
|
Hand polydactyly |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
13
|
(HPO:0001180)
|
Hand oligodactyly |
|
|
|
|
17 / 7739
|
14
|
(HPO:0009380)
|
Aplasia of the fingers |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
15
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
16
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
17
|
(HPO:0001702)
|
Abnormality of the tricuspid valve |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
18
|
(HPO:0002204)
|
Pulmonary embolism |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
19
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Frequent [Orphanet]
|
|
|
|
97 / 7739
|
20
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
21
|
(HPO:0002653)
|
Bone pain |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
22
|
(HPO:0004936)
|
Venous thrombosis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
23
|
(HPO:0005293)
|
Venous insufficiency |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
24
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
25
|
(HPO:0100559)
|
Lower limb asymmetry |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
26
|
(HPO:0100585)
|
Telangiectasia of the skin |
Very frequent [Orphanet]
|
|
|
|
66 / 7739
|
27
|
(HPO:0100729)
|
Large face |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
28
|
(HPO:0100746)
|
Macrodactyly of finger |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
29
|
(HPO:0100761)
|
Visceral angiomatosis |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
30
|
(HPO:0004947)
|
Arteriovenous fistula |
|
|
|
|
3 / 7739
|
31
|
(HPO:0100784)
|
Peripheral arteriovenous fistula |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
32
|
(HPO:0200042)
|
Skin ulcer |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
33
|
(HPO:0011276)
|
Vascular skin abnormality |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
34
|
(HPO:0100555)
|
Asymmetric growth |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
35
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
36
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
37
|
(HPO:0100026)
|
Arteriovenous malformation |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
38
|
(HPO:0003010)
|
Prolonged bleeding time |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
39
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
40
|
(HPO:0002814)
|
Abnormality of the lower limb |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
41
|
(HPO:0000858)
|
Menstrual irregularities |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
42
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
43
|
(HPO:0002817)
|
Abnormality of the upper limb |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
44
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
45
|
(HPO:0003549)
|
Abnormality of connective tissue |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
46
|
(HPO:0001028)
|
Hemangioma |
|
|
|
|
23 / 7739
|
47
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
48
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
49
|
(HPO:0001528)
|
Hemihypertrophy |
|
|
|
|
13 / 7739
|
50
|
(HPO:0001871)
|
Abnormality of blood and blood-forming tissues |
|
|
|
|
37 / 7739
|
51
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
52
|
(HPO:0004099)
|
Macrodactyly |
|
|
|
|
5 / 7739
|
53
|
(HPO:0005606)
|
Hyperpigmented nevi and streak |
|
|
|
|
2 / 7739
|
54
|
(HPO:0100764)
|
Lymphangioma |
|
|
|
|
11 / 7739
|