Metadata | |
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ID | DOID:0110524 |
Name | autosomal recessive nonsyndromic deafness 76 |
Definition | An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/23348741 |
Xrefs | |
Synonyms |
autosomal recessive deafness 76 [EXACT] DFNB76 [EXACT] |
Parent Relationships |