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GTR Home > Conditions/Phenotypes > Multiple epiphyseal dysplasia, Beighton type

Multiple epiphyseal dysplasia, Beighton type

Synonyms
Epiphyseal dysplasia, multiple, with myopia and conductive deafness
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia, visual impairment (with early-onset progressive myopia, retinal thinning, and cataracts), and conductive hearing loss. Patients are of short stature and present brachydactyly, genu valgus deformity, and joint pain. [from ORDO]

Available tests

72 tests are in the database for this condition.

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Clinical tests (72 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANFH, AOM, COL11A3, SEDC, STL1, COL2A1
    Summary: collagen type II alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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