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