DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive nonsyndromic deafness 57

Autosomal recessive nonsyndromic deafness 57 [DOID:0111635]

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 PDZD7 on chromosome 10q24.31.

Synonyms:  autosomal recessive nonsyndromic deafness 57,  DOID:0111635,  DFNB57,  autosomal recessive deafness 57