| Metadata | |
|---|---|
| ID | DOID:0111635 |
| Name | autosomal recessive nonsyndromic deafness 57 |
| 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 |
| Xrefs | |
| Synonyms |
autosomal recessive deafness 57 [EXACT] DFNB57 [EXACT] |
| Parent Relationships |