autosomal recessive nonsyndromic deafness 67

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21.

Signs and symptoms

• Sensorineural hearing impairment
• Bilateral sensorineural hearing impairment
• Abnormal vestibular function
• Abnormal fundus morphology

Also known as: DFNB67; autosomal recessive deafness 67