X-linked deafness 5

A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1.

Signs and symptoms

• Hearing impairment
• Cochlear nerve hypoplasia
• Tinnitus
• Abnormal middle ear reflexes
• Areflexia
• Sensory axonal neuropathy
• Distal sensory impairment
• Abnormal speech discrimination
• Unsteady gait
• Myopia

Also known as: AUNX1; DFNX5; X-linked HSAN with deafness; X-linked auditory neuropathy 1 with peripheral sensory neuropathy; X-linked auditory neuropathy with peripheral sensory neuropathy type 1