autosomal dominant nonsyndromic deafness 76

An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosom

An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23.

Signs and symptoms

• Sensorineural hearing impairment
• Abnormal vestibular function
• Motor delay
• Positive Romberg sign

Also known as: DFNA76