Term Name: | autosomal dominant auditory neuropathy 1 |
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Synonyms: | AUNA1, nonsyndromic dominant auditory neuropathy, NSDAN |
Definition: | An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. |
Ontology: | Human Disease [DOID:0060690] ( DOID:0060690 ) |