autosomal recessive nonsyndromic deafness 99

An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17

An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12.

Signs and symptoms

• Abnormal vestibular function
• Sensorineural hearing impairment

Also known as: DFNB99; autosomal recessive deafness 99