|
1
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0002655)
|
Spondyloepiphyseal dysplasia |
|
|
|
|
21 / 7739
|
|
4
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
5
|
(HPO:0003185)
|
Short sacroiliac notch |
|
|
|
|
7 / 7739
|
|
6
|
(HPO:0008430)
|
Anterior beaking of lumbar vertebrae |
|
|
|
|
5 / 7739
|
|
7
|
(OMIM)
|
Absent dens epistrophei |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Flared iliac bones ('Mickey Mouse ear-shaped') |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Short sacrosciatic notch |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Acetabular deformity with femoral subluxation and coxa valga |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Unusually narrow femoral necks |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|