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autosomal recessive nonsyndromic deafness 53 (DOID:0110509)
Alliance: disease page
Synonyms: autosomal recessive deafness 53; DFNB53
Alt IDs: OMIM:609706, ICD10CM:H90.3
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.


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last database update
11/28/2017
MGI 6.11
The Jackson Laboratory