Spondyloepiphyseal dysplasia
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
| Max Magnitude | |
|---|---|
| rs12418 | 0 |
| rs1871450 | 0 |
| rs3740129 | 0 |
| rs387906534 | 0 |
| rs4148943 | 0 |
| rs4148945 | 0 |
| rs4148947 | 0 |
| rs4148950 | 0 |
| rs730720 | 0 |
| rs746032983 | 0 |
| rs869312907 | 0 |
Spondyloepiphyseal dysplasia congenita is a rare inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing.GHR
Inherited dominantly, spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene.GHR
