1
|
(HPO:0000592)
|
Blue sclerae |
Frequent [Orphanet]
frequent [HPO]
|
|
16928994
|
IBIS
|
85 / 7739
|
2
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
3
|
(HPO:0000768)
|
Pectus carinatum |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
4
|
(HPO:0000963)
|
Thin skin |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
5
|
(HPO:0000987)
|
Atypical scarring of skin |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
6
|
(HPO:0001065)
|
Striae distensae |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
7
|
(HPO:0001363)
|
Craniosynostosis |
Occasional [Orphanet]
typical [HPO]
|
|
16928994
|
IBIS
|
132 / 7739
|
8
|
(HPO:0001373)
|
Joint dislocation |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
9
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
10
|
(HPO:0001388)
|
Joint laxity |
common [HPO]
|
|
16928994
|
IBIS
|
117 / 7739
|
11
|
(HPO:0001519)
|
Disproportionate tall stature |
Frequent [Orphanet]
occasional [HPO]
|
|
16928994
|
IBIS
|
39 / 7739
|
12
|
(HPO:0001643)
|
Patent ductus arteriosus |
Very frequent [Orphanet]
35% [HPO]
|
|
16928994
|
IBIS
|
228 / 7739
|
13
|
(HPO:0001763)
|
Pes planus |
Very frequent [Orphanet]
|
|
|
|
176 / 7739
|
14
|
(HPO:0002617)
|
Aneurysm |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
15
|
(HPO:0002647)
|
Aortic dissection |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
16
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
typical [HPO]
|
|
16928994
|
IBIS
|
705 / 7739
|
17
|
(HPO:0005294)
|
Arterial dissection |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
18
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
19
|
(HPO:0100718)
|
Uterine rupture |
Very frequent [Orphanet]
|
|
|
|
3 / 7739
|
20
|
(HPO:0000272)
|
Malar flattening |
Frequent [Orphanet]
typical [HPO]
|
|
16928994
|
IBIS
|
277 / 7739
|
21
|
(HPO:0002616)
|
Aortic root dilatation |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
22
|
(HPO:0000098)
|
Tall stature |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
23
|
(HPO:0001695)
|
Cardiac arrest |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
24
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
25
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
26
|
(HPO:0003010)
|
Prolonged bleeding time |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
27
|
(HPO:0011302)
|
Long palm |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
28
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
29
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
30
|
(HPO:0000175)
|
Cleft palate |
common [HPO]
|
|
|
|
349 / 7739
|
31
|
(HPO:0000193)
|
Bifid uvula |
common [HPO]
|
|
|
|
66 / 7739
|
32
|
(HPO:0000238)
|
Hydrocephalus |
occasional [HPO]
|
|
|
|
278 / 7739
|
33
|
(HPO:0000278)
|
Retrognathia |
typical [HPO]
|
|
|
|
100 / 7739
|
34
|
(HPO:0000316)
|
Hypertelorism |
hallmark [HPO]
|
|
|
|
644 / 7739
|
35
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
36
|
(HPO:0000520)
|
Proptosis |
typical [HPO]
|
|
|
|
192 / 7739
|
37
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
38
|
(HPO:0000766)
|
Abnormality of the sternum |
common [HPO]
|
|
|
|
31 / 7739
|
39
|
(HPO:0000977)
|
Soft skin |
frequent [HPO]
|
|
|
|
23 / 7739
|
40
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
41
|
(HPO:0001166)
|
Arachnodactyly |
common [HPO]
|
|
|
|
62 / 7739
|
42
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
43
|
(HPO:0001263)
|
Global developmental delay |
15% [HPO]
|
|
|
|
853 / 7739
|
44
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
45
|
(HPO:0001631)
|
Atria septal defect |
22% [HPO]
|
|
|
|
274 / 7739
|
46
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
47
|
(HPO:0001647)
|
Bicuspid aortic valve |
|
|
|
|
34 / 7739
|
48
|
(HPO:0001762)
|
Talipes equinovarus |
typical [HPO]
|
|
|
|
309 / 7739
|
49
|
(HPO:0002308)
|
Arnold-Chiari malformation |
occasional [HPO]
|
|
|
|
42 / 7739
|
50
|
(HPO:0002631)
|
Ascending aortic aneurysm |
hallmark [HPO]
|
|
|
|
9 / 7739
|
51
|
(HPO:0004933)
|
Ascending aortic dissection |
typical [HPO]
|
|
|
|
6 / 7739
|
52
|
(HPO:0004937)
|
Pulmonary artery aneurysm |
|
|
|
|
4 / 7739
|
53
|
(HPO:0004944)
|
Cerebral aneurysm |
|
|
|
|
12 / 7739
|
54
|
(HPO:0004954)
|
Descending aortic aneurysm |
|
|
|
|
3 / 7739
|
55
|
(HPO:0004955)
|
Generalized arterial tortuosity |
common [HPO]
|
|
|
|
7 / 7739
|
56
|
(HPO:0005182)
|
Bicuspid pulmonary valve |
rare [HPO]
|
|
|
|
3 / 7739
|
57
|
(HPO:0009473)
|
Joint contracture of the hand |
frequent [HPO]
|
|
|
|
84 / 7739
|
58
|
(HPO:0010648)
|
Dermal translucency |
|
|
|
|
6 / 7739
|
59
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|