autosomal recessive nonsyndromic deafness 119

An autosomal recessive nonsyndromic deafness characterized by mild to profound sensorineural hearing loss that has_material_basis_in compound heterozygous mutation in the AFG2B gene on chromosome 15q21.

Signs and symptoms

• Sensorineural hearing impairment
• Seizure
• Global developmental delay
• Intellectual disability

Also known as: DFNB119