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Metadata
ID DOID:0112373
Name autosomal dominant auditory neuropathy 3
Definition An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1.
https://pubmed.ncbi.nlm.nih.gov/34050020/
Xrefs

MIM:619832

Synonyms

AUNA3 [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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