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autosomal recessive nonsyndromic deafness 53
Summary
- Synonym
-
- DFNB53
- autosomal recessive deafness 53
- 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 COL11A2 gene on chromosome 6p21.
- Super Class
- autosomal recessive nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0110509
- Mondo Disease Ontology
- OMIM
