autosomal recessive nonsyndromic deafness 109

An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation

An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1.

Signs and symptoms

• Abnormal semicircular canal morphology
• Congenital sensorineural hearing impairment
• Absent vestibular function

Also known as: DFNB109; autosomal recessive deafness 109