autosomal recessive nonsyndromic deafness 123

An autosomal recessive nonsyndromic deafness characterized by bilateral severe to profound hearing impairment with onset as early as the first decade of life that has_material_basis_in homozygous mutation in the STX4 gene on chromosome 16p11.

Signs and symptoms

• Sensorineural hearing impairment
• Macrocephaly
• Abnormal vestibular function
• Intellectual disability

Also known as: DFNB123