autosomal dominant auditory neuropathy 1

Term ID

DOID:0060690

Synonyms

• AUNA1
• nonsyndromic dominant auditory neuropathy
• NSDAN

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. (2)

References

• ICD10CM:H90.3
• MIM:609129

Ontology

Human Disease   ( DOID:0060690 )