autosomal recessive nonsyndromic deafness 57 (DOID:0111635)
Alliance: disease page
Synonyms: autosomal recessive deafness 57; DFNB57
Alt IDs: OMIM:618003
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.