Term Name: | autosomal recessive nonsyndromic deafness 1A |
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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 ) |