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GTR Home > Conditions/Phenotypes > Hearing loss, autosomal recessive 57

Hearing loss, autosomal recessive 57

Synonyms
Deafness, autosomal recessive 57

Summary

Autosomal recessive deafness-57 (DFNB57) is characterized by symmetric bilateral moderate to severe hearing loss, represented by gently downward-sloping audiograms. The hearing loss may be mildly progressive (Guan et al., 2018). [from OMIM]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DFNB57, PDZK7, PDZD7
    Summary: PDZ domain containing 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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