Metadata | |
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ID | DOID:0110584 |
Name | autosomal dominant nonsyndromic deafness 6 |
Definition | An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16. https://www.ncbi.nlm.nih.gov/pubmed/11709537, https://www.ncbi.nlm.nih.gov/pubmed/11709538 |
Xrefs | |
Synonyms |
autosomal dominant deafness 14 [EXACT] autosomal dominant deafness 38 [EXACT] autosomal dominant deafness 6 [EXACT] DFNA14 [EXACT] DFNA38 [EXACT] DFNA6 [EXACT] DFNA6/14/38 [EXACT] |
Parent Relationships |