autosomal dominant nonsyndromic deafness 82

Term ID

DOID:0070603

Synonyms

• autosomal dominant deafness 82
• DFNA82

Definition

An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1. https://pubmed.ncbi.nlm.nih.gov/30535804/

References

• MIM:619804

Ontology

Human Disease   ( DOID:0070603 )