autosomal recessive nonsyndromic deafness 125

An autosomal recessive nonsyndromic deafness characterized by congenital nonsyndromic sensorineural hearing loss hat has_material_basis_in homozygous mutation in the GAS2 gene on chromosome 11p14.

Signs and symptoms

• Delayed speech and language development
• Sensorineural hearing impairment
• Abnormal vestibular function
• Abnormal facial shape

Also known as: DFNB125; autosomal recessive deafness 125