1
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
2
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
3
|
(HPO:0004947)
|
Arteriovenous fistula |
|
|
|
|
3 / 7739
|
4
|
(HPO:0100784)
|
Peripheral arteriovenous fistula |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
5
|
(HPO:0100724)
|
Hypercoagulability |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
6
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
7
|
(HPO:0001789)
|
Hydrops fetalis |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
8
|
(HPO:0005293)
|
Venous insufficiency |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
9
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
10
|
(HPO:0000098)
|
Tall stature |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
11
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Frequent [Orphanet]
|
|
|
|
97 / 7739
|
12
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
13
|
(HPO:0000929)
|
Abnormality of the skull |
Occasional [Orphanet]
|
|
|
|
53 / 7739
|
14
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
15
|
(HPO:0011029)
|
Internal hemorrhage |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
16
|
(HPO:0001541)
|
Ascites |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
17
|
(HPO:0000790)
|
Hematuria |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
18
|
(HPO:0002204)
|
Pulmonary embolism |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
19
|
(HPO:0100559)
|
Lower limb asymmetry |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
20
|
(HPO:0003010)
|
Prolonged bleeding time |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
21
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
22
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
23
|
(HPO:0004936)
|
Venous thrombosis |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
24
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
25
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
26
|
(HPO:0001935)
|
Microcytic anemia |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
27
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
28
|
(HPO:0001004)
|
Lymphedema |
|
|
|
|
62 / 7739
|
29
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
30
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
31
|
(HPO:0001528)
|
Hemihypertrophy |
|
|
|
|
13 / 7739
|
32
|
(HPO:0001702)
|
Abnormality of the tricuspid valve |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
33
|
(HPO:0004099)
|
Macrodactyly |
|
|
|
|
5 / 7739
|
34
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
35
|
(HPO:0005606)
|
Hyperpigmented nevi and streak |
|
|
|
|
2 / 7739
|
36
|
(HPO:0100764)
|
Lymphangioma |
|
|
|
|
11 / 7739
|
37
|
(OMIM)
|
Large cutaneous hemangiomata, capillary and cavernous |
|
|
|
|
1 / 7739
|
38
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
39
|
(HPO:0012165)
|
Oligodactyly |
|
|
|
|
18 / 7739
|
40
|
(OMIM)
|
Kasabach-Merritt syndrome |
|
|
|
|
1 / 7739
|
41
|
(HPO:0003549)
|
Abnormality of connective tissue |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
42
|
(HPO:0000969)
|
Edema |
Occasional [Orphanet]
|
|
|
|
117 / 7739
|
43
|
(HPO:0000858)
|
Menstrual irregularities |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
44
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
45
|
(HPO:0002817)
|
Abnormality of the upper limb |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|