X-linked deafness 2

An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene o

An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1.

Signs and symptoms

• Dilatated internal auditory canal
• Progressive sensorineural hearing impairment
• Stapes ankylosis
• Conductive hearing impairment
• Mixed hearing impairment
• Congenital sensorineural hearing impairment

Also known as: DFN3; DFNX2; Nance deafness; X-linked deafness type 2; X-linked mixed conductive and neurosensory deafness