autosomal dominant nonsyndromic deafness 80

An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11.

Signs and symptoms

• Abnormal semicircular canal morphology
• Cochlear aplasia
• Dilated vestibule of the inner ear
• Congenital sensorineural hearing impairment
• Cochlear nerve aplasia

Also known as: DFNA80; autosomal dominant deafness 80