1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
2
|
(HPO:0000098)
|
Tall stature |
|
|
|
|
74 / 7739
|
3
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
4
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
5
|
(HPO:0000316)
|
Hypertelorism |
rare [HPO:skoehler]
|
|
|
|
644 / 7739
|
6
|
(HPO:0000494)
|
Downslanted palpebral fissures |
rare [HPO:skoehler]
|
|
|
|
328 / 7739
|
7
|
(HPO:0000766)
|
Abnormality of the sternum |
|
|
|
|
31 / 7739
|
8
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
9
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
10
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
11
|
(HPO:0001647)
|
Bicuspid aortic valve |
rare [HPO:skoehler]
|
|
|
|
34 / 7739
|
12
|
(HPO:0001762)
|
Talipes equinovarus |
rare [HPO:skoehler]
|
|
|
|
309 / 7739
|
13
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
14
|
(HPO:0002097)
|
Emphysema |
rare [HPO:skoehler]
|
|
|
|
40 / 7739
|
15
|
(HPO:0002107)
|
Pneumothorax |
rare [HPO:skoehler]
|
|
|
|
7 / 7739
|
16
|
(HPO:0002647)
|
Aortic dissection |
|
|
|
|
14 / 7739
|
17
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
18
|
(HPO:0003302)
|
Spondylolisthesis |
rare [HPO:skoehler]
|
|
|
|
14 / 7739
|
19
|
(HPO:0005116)
|
Arterial tortuosity |
|
|
|
|
4 / 7739
|
20
|
(HPO:0005692)
|
Joint hyperflexibility |
|
|
|
|
20 / 7739
|
21
|
(HPO:0100775)
|
Dural ectasia |
|
|
|
|
5 / 7739
|
22
|
(OMIM)
|
Broad or bifid uvula (in some patients) |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Aortic root aneurysm |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Cerebrovascular aneurysm (in some patients) |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Fusiform dilation and tortuosity of cerebrovascular arteries |
|
|
|
|
1 / 7739
|
26
|
(HPO:0100750)
|
Atelectasis |
|
|
|
|
17 / 7739
|
27
|
(OMIM)
|
Protrusio acetabularis |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Wrist sign |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Steinberg thumb sign |
|
|
|
|
1 / 7739
|
30
|
(HPO:0001065)
|
Striae distensae |
|
|
|
|
26 / 7739
|
31
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|