|
1
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
2
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
3
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
|
4
|
(HPO:0002630)
|
Fat malabsorption |
|
|
|
|
11 / 7739
|
|
5
|
(HPO:0004380)
|
Aortic valve calcification |
|
|
|
|
5 / 7739
|
|
6
|
(HPO:0004764)
|
Myxomatous mitral valve degeneration |
|
|
|
|
2 / 7739
|
|
7
|
(HPO:0005195)
|
Polyarticular arthropathy |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0006694)
|
Early progressive calcific cardiac valvular disease |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0007605)
|
Excessive wrinkling of palmar skin |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0200129)
|
Calcific mitral stenosis |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
12
|
(OMIM)
|
Loss of eyebrows and eyelashes |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Thinning and graying of scalp hair in adolescence |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Taut skin over hands and face |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0007495)
|
Prematurely aged appearance |
|
|
|
|
44 / 7739
|
|
16
|
(OMIM)
|
No scleroderma-type changes |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Calcific aortic stenosis |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Intestinal fat malabsorption |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|