GTR Home > Conditions/Phenotypes > Hearing loss, autosomal dominant 82

Summary

Autosomal dominant deafness-82 (DFNA82) is characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade, although later onset may rarely occur. Affected individuals often pass the newborn screening test before the onset of mild to profound hearing loss (Smits et al., 2019). [from OMIM]

Available tests

2 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: DFNA82, PMCA2, PMCA2a, PMCA2i, ATP2B2
    Summary: ATPase plasma membrane Ca2+ transporting 2

Clinical features

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