Metadata | |
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ID | DOID:0110569 |
Name | autosomal dominant nonsyndromic deafness 44 |
Definition | An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28. https://www.ncbi.nlm.nih.gov/pubmed/17503326 |
Xrefs | |
Synonyms |
autosomal dominant deafness 44 [EXACT] DFNA44 [EXACT] |
Parent Relationships |