Metadata | |
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ID | 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 |
Xrefs | |
Synonyms |
AUNA1 [EXACT] nonsyndromic dominant auditory neuropathy [EXACT] NSDAN [EXACT] |
Parent Relationships |