|
1
|
(HPO:0000362)
|
Otosclerosis |
|
|
|
|
10 / 7739
|
|
2
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
3
|
(HPO:0000703)
|
Dentinogenesis imperfecta |
|
|
|
|
18 / 7739
|
|
4
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
|
5
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
6
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
7
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
8
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
9
|
(HPO:0003321)
|
Biconcave flattened vertebrae |
|
|
|
|
5 / 7739
|
|
10
|
(OMIM)
|
Normal to near normal stature |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Height often shorter than unaffected family members |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Hearing loss, progressive conductive and/or sensorineural, during adulthood |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Normal teeth |
|
|
|
|
15 / 7739
|
|
14
|
(OMIM)
|
Opalescent teeth |
|
|
|
|
4 / 7739
|
|
15
|
(OMIM)
|
Mild osteopenia |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Occasional femoral bowing |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Mild joint hypermobility |
|
|
|
|
1 / 7739
|