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multiple epiphyseal dysplasia with myopia & conductive deafness
Genetics:
- autosomal dominant
- associated with defects in COL2A1
Clinical manifestations:
- epiphyseal dysplasia
- progressive myopia
- retinal thinning
- crenated cataracts
- conductive deafness
General
multiple epiphyseal dysplasia (EDM)
Database Correlations
OMIM 132450
References
OMIM :accession 132450