autosomal recessive nonsyndromic deafness 116

An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3.

Signs and symptoms

• Sensorineural hearing impairment
• Global developmental delay
• Positive Romberg sign

Also known as: DFNB116