autosomal recessive nonsyndromic deafness 12

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.

Signs and symptoms

• Prelingual sensorineural hearing impairment
• Abnormal vestibular function
• Rod-cone dystrophy

Also known as: DFNB12; autosomal recessive deafness 12