Term Name: autosomal dominant nonsyndromic deafness 76
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.
Ontology: Human Disease [DOID:0112167]   ( DOID:0112167 )

Relationships
is a type of: autosomal dominant nonsyndromic deafness