|
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 |
10% [HPO:skoehler]
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0000703)
|
Dentinogenesis imperfecta |
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
9
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
10
|
(HPO:0003023)
|
Bowing of limbs due to multiple fractures |
|
|
|
|
6 / 7739
|
|
11
|
(HPO:0003321)
|
Biconcave flattened vertebrae |
|
|
|
|
5 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0004349)
|
Reduced bone mineral density |
|
|
|
|
165 / 7739
|
|
14
|
(HPO:0005005)
|
Femoral bowing present at birth, straightening with time |
|
|
|
|
2 / 7739
|