Multiple epiphyseal dysplasia, Beighton type
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Sign InDescription
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.
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
6