Metadata | |
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ID | DOID:0110476 |
Name | autosomal recessive nonsyndromic deafness 1B |
Definition | An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/11807148 |
Xrefs | |
Synonyms |
autosomal recessive deafness 1B [EXACT] DFNB1B [EXACT] |
Parent Relationships |