|
1
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
2
|
(HPO:0005871)
|
Metaphyseal chondrodysplasia |
|
|
|
|
10 / 7739
|
|
3
|
(HPO:0008155)
|
Mucopolysacchariduria |
|
|
|
|
6 / 7739
|
|
4
|
(OMIM)
|
Metaphyseal dysplasia with massive calcific deposits |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Ossification defects |
|
|
|
|
3 / 7739
|
|
6
|
(OMIM)
|
Cartilage proliferation |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Epiphyseal changes |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Ribs, iliac, tarsal and carpal bones severely affected |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Progressive deformity |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|