autosomal dominant nonsyndromic deafness 76

Term ID

DOID:0112167

Synonyms

• DFNA76

Definition

An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. (3)

References

• OMIM:618787

Ontology

Human Disease   ( DOID:0112167 )