Term Name: autosomal recessive nonsyndromic deafness 57
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 )

Relationships
is a type of: autosomal recessive nonsyndromic deafness