Term Name: autosomal recessive nonsyndromic deafness 1A
Synonyms: autosomal recessive deafness 1A, DFNB1A
Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.
Ontology: Human Disease [DOID:0110475]   ( DOID:0110475 )

Relationships
is a type of: autosomal recessive nonsyndromic deafness digenic disease