|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000362)
|
Otosclerosis |
|
|
|
|
10 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0000703)
|
Dentinogenesis imperfecta |
Rare [HPO:probinson]
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
7
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
9
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
10
|
(HPO:0001507)
|
Growth abnormality |
|
|
|
|
36 / 7739
|
|
11
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
12
|
(HPO:0001724)
|
Aortic dilatation |
|
|
|
|
24 / 7739
|
|
13
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
14
|
(HPO:0002659)
|
Increased susceptibility to fractures |
|
|
|
|
110 / 7739
|
|
15
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
16
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
17
|
(HPO:0003321)
|
Biconcave flattened vertebrae |
|
|
|
|
5 / 7739
|