Usher syndrome type 2C

An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14.

Signs and symptoms

• Rod-cone dystrophy
• Congenital sensorineural hearing impairment

Also known as: USH2C; Usher syndrome IIC; Usher syndrome type IIC