|
1
|
(HPO:0000293)
|
Full cheeks |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0001582)
|
Redundant skin |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
4
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
5
|
(HPO:0001641)
|
Abnormality of the pulmonary valve |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
6
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
7
|
(HPO:0002097)
|
Emphysema |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
|
8
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
9
|
(HPO:0002256)
|
Small bowel diverticula |
Frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
10
|
(HPO:0007495)
|
Prematurely aged appearance |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
11
|
(HPO:0001654)
|
Abnormality of the heart valves |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
|
12
|
(HPO:0009125)
|
Lipodystrophy |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
14
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
15
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
|
16
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
17
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
|
|
64 / 7739
|
|
18
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
|
|
36 / 7739
|