X-linked deafness 1

An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3.

Signs and symptoms

• Sensorineural hearing impairment

Also known as: DFN2; DFNX1; X-linked sensorineural congenital deafness 2