Term Name: | autosomal recessive nonsyndromic deafness 84A |
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Synonyms: | autosomal recessive deafness 84A, autosomal recessive deafness 84A with vestibular dysfunction, DFNB84A |
Definition: | An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. |
Ontology: | Human Disease [DOID:0110529] ( DOID:0110529 ) |