1
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
2
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
3
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
4
|
(HPO:0002655)
|
Spondyloepiphyseal dysplasia |
|
|
|
|
21 / 7739
|
5
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
6
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
7
|
(HPO:0002942)
|
Thoracic kyphosis |
|
|
|
|
14 / 7739
|
8
|
(HPO:0002945)
|
Intervertebral space narrowing |
|
|
|
|
7 / 7739
|
9
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
10
|
(HPO:0003184)
|
Decreased hip abduction |
|
|
|
|
7 / 7739
|
11
|
(HPO:0003301)
|
Irregular vertebral endplates |
|
|
|
|
25 / 7739
|
12
|
(HPO:0003370)
|
Flat capital femoral epiphysis |
|
|
|
|
15 / 7739
|
13
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
14
|
(HPO:0006429)
|
Broad femoral neck |
|
|
|
|
18 / 7739
|
15
|
(OMIM)
|
Short trunk short stature (<3rd - 50th percentile) |
|
|
|
|
1 / 7739
|
16
|
(OMIM)
|
Mild spondyloepiphyseal dysplasia |
|
|
|
|
3 / 7739
|
17
|
(OMIM)
|
Flattened capital femoral epiphyses |
|
|
|
|
5 / 7739
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|