|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
3
|
(HPO:0000592)
|
Blue sclerae |
rare [HPO:skoehler]
|
|
|
|
85 / 7739
|
|
4
|
(HPO:0000703)
|
Dentinogenesis imperfecta |
rare [HPO:skoehler]
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
6
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
7
|
(HPO:0001382)
|
Joint hypermobility |
rare [HPO:skoehler]
|
|
|
|
231 / 7739
|
|
8
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
9
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
|
10
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
11
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0004586)
|
Biconcave vertebral bodies |
|
|
|
|
15 / 7739
|
|
14
|
(HPO:0005084)
|
Anterior radial head dislocation |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0006394)
|
Limited pronation/supination of forearm |
|
|
|
|
4 / 7739
|
|
16
|
(HPO:0008422)
|
Vertebral wedging |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0030268)
|
Hyperplastic callus formation |
|
|
|
|
1 / 7739
|