|
1
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0000703)
|
Dentinogenesis imperfecta |
|
|
|
|
18 / 7739
|
|
3
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
4
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
5
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
6
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
7
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
8
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
9
|
(HPO:0003023)
|
Bowing of limbs due to multiple fractures |
|
|
|
|
6 / 7739
|
|
10
|
(HPO:0005855)
|
Multiple prenatal fractures |
|
|
|
|
10 / 7739
|
|
11
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
12
|
(OMIM)
|
White to gray sclerae |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|