autosomal recessive nonsyndromic deafness 53

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.

Signs and symptoms

• Sensorineural hearing impairment

Also known as: DFNB53; autosomal recessive deafness 53