autosomal recessive nonsyndromic deafness 124

An autosomal recessive nonsyndromic deafness characterized by congenital progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PKHD1L1 gene on chromosome 8q23.

Signs and symptoms

• Sensorineural hearing impairment
• Abnormal vestibular function
• Abnormality of the cardiovascular system
• Intellectual disability
• Abnormality of the eye

Also known as: DFNB124; autosomal recessive deafness 124