Term Name: | autosomal recessive nonsyndromic deafness 57 |
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Synonyms: | autosomal recessive deafness 57, DFNB57 |
Definition: | An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31. |
Ontology: | Human Disease [DOID:0111635] ( DOID:0111635 ) |