Disease

multiple epiphyseal dysplasia with myopia and deafness

Definition

A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.

Synonyms

EDMMD
multiple epiphyseal dysplasia-myopia-deafness syndrome

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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