autosomal recessive nonsyndromic deafness 57

An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31.

Signs and symptoms

• Hearing impairment
• Sensorineural hearing impairment
• Abnormal vestibular function
• Visual impairment
• Abnormal retinal morphology

Also known as: DFNB57; autosomal recessive deafness 57