autosomal recessive nonsyndromic deafness 1A

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.

Signs and symptoms

• Sensorineural hearing impairment
• Abnormal vestibular function

Also known as: DFNB1A; autosomal recessive deafness 1A; digenic deafness GJB2/GJB3; digenic deafness GJB2/GJB6