autosomal recessive nonsyndromic deafness 57

Term ID

DOID:0111635

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. https://www.ncbi.nlm.nih.gov/pubmed/29048736

References

• MIM:618003

Ontology

Human Disease   ( DOID:0111635 )