Term Name: autosomal dominant nonsyndromic deafness 78
Synonyms: DFNA78
Definition: An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3.
Ontology: Human Disease [DOID:0112159]   ( DOID:0112159 )

Relationships
is a type of: autosomal dominant nonsyndromic deafness