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autosomal dominant auditory neuropathy 3
Summary
- Synonym
-
- AUNA3
- 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.
- Super Class
- autosomal dominant nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0112373
- Mondo Disease Ontology
- OMIM
