autosomal recessive nonsyndromic deafness 115

An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2.

Signs and symptoms

• Sensorineural hearing impairment

Also known as: DFNB115; autosomal recessive deafness 115