autosomal dominant nonsyndromic deafness 87

An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_mater

An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21.

Signs and symptoms

• Incomplete partition of the cochlea type II
• Hearing impairment
• Enlarged vestibular aqueduct

Also known as: DFNA87; autosomal dominant deafness 87