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Multiple epiphyseal dysplasia, Beighton type
MONDO:0007562Multiple 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.
Also known as: epiphyseal dysplasia, multiple, with myopia and deafness, EDMMD, epiphyseal dysplasia, multiple, with myopia and conductive deafness
1 clinical trial for this condition and its sub-types.
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