autosomal recessive nonsyndromic deafness 117

An autosomal recessive nonsyndromic deafness characterized by bilateral moderate-to-profound sensorineural deafness with onset in early childhood that has_material_basis_in homozygous mutation in the CLRN2 gene on chromosome 4p15.

Signs and symptoms

• Sensorineural hearing impairment
• Abnormal vestibular function

Also known as: DFNB117; autosomal recessive deafness 117