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Multiple epiphyseal dysplasia, Beighton type

rare

Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.

Identifiers
MONDO:0007562 OMIM:132450Orphanet:166011
Causal genes
COL2A1
Part of
Multiple epiphyseal dysplasiaType 2 collagenopathy
Also known as
EDMMD · epiphyseal dysplasia, multiple, with myopia and conductive deafness · epiphyseal dysplasia, multiple, with myopia and deafness

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