Metadata | |
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ID | DOID:0110467 |
Name | autosomal recessive nonsyndromic deafness 12 |
Definition | An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22. https://www.ncbi.nlm.nih.gov/pubmed/11090341 |
Xrefs | |
Synonyms |
autosomal recessive deafness 12 [EXACT] DFNB12 [EXACT] |
Parent Relationships |