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autosomal dominant auditory neuropathy 1
Summary
- Synonym
-
- AUNA1
- NSDAN
- nonsyndromic dominant auditory neuropathy
- 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.
- Super Class
- autosomal dominant nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0060690
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
