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Auditory neuropathy, autosomal dominant 2

Summary

Autosomal dominant auditory neuropathy-2 (AUNA2) is characterized by postlingual onset of progressive bilateral sensorineural hearing loss in the second decade, leading to profound deafness in the fifth decade. Affected individuals show abnormal auditory brainstem responses (ABR) even before the onset of symptoms. Outer hair cell (OHC) function is preserved initially, but declines with age (Lang-Roth et al., 2017). For a discussion of genetic heterogeneity of autosomal dominant auditory neuropathy, see AUNA1 (609129). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ATPIH, ATPIS, AUNA2, DFNA84, HLD24, ATP11A
    Summary: ATPase phospholipid transporting 11A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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