Conditions / Nervous system

autosomal dominant nonsyndromic deafness 86

info ยท Nervous system

An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11.

Signs and symptoms

  • Sensorineural hearing impairment
  • Tinnitus
  • Abnormal vestibular function
  • Abnormal inner ear morphology

Also known as: DFNA86; autosomal dominant deafness 86