autosomal dominant nonsyndromic deafness 84

Term ID

DOID:0070604

Synonyms

• autosomal dominant deafness 84
• DFNA84

Definition

An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. https://pubmed.ncbi.nlm.nih.gov/35278131/

References

• MIM:619810

Ontology

Human Disease   ( DOID:0070604 )