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spondyloepiphyseal dysplasia congenital type (SEDC)
Pathology:
- congenital chondrodysplasia
Genetics:
- associated with defects in COL2A1
Clinical manifestations:
- disproportionate short stature
- pleiotropic involvement of the skeletal & ocular systems
General
spondyloepiphyseal dysplasia
Database Correlations
OMIM 183900
References
OMIM :accession 183900