Metadata | |
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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 |