autosomal recessive nonsyndromic deafness 118

An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss and cochlear aplasia that has_material_basis_in homozygous 200-kb deletion of a region downstream of the GDF6 gene on chromosome 8q22 resulting in its

An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss and cochlear aplasia that has_material_basis_in homozygous 200-kb deletion of a region downstream of the GDF6 gene on chromosome 8q22 resulting in its misexpression.

Signs and symptoms

• Cochlear aplasia
• Congenital sensorineural hearing impairment
• Abnormal vestibular function

Also known as: DFNB118