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Metadata
DOID DOID:0060690
Name autosomal dominant auditory neuropathy 1
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.
https://www.ncbi.nlm.nih.gov/pubmed/15520414, https://www.ncbi.nlm.nih.gov/pubmed/20624953
Synonyms

AUNA1 [EXACT]

nonsyndromic dominant auditory neuropathy [EXACT]

NSDAN [EXACT]

Xrefs

ICD10CM:H90.3

OMIM:609129

Relationships

is_a autosomal dominant nonsyndromic deafness

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