Term Name: autosomal dominant auditory neuropathy 1
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 )

Relationships
is a type of: autosomal dominant nonsyndromic deafness