X-linked deafness 5 (DOID:0111741)
Alliance: disease page
Synonyms: AUNX1; DFNX5; X-linked auditory neuropathy 1 with peripheral sensory neuropathy; X-linked auditory neuropathy with peripheral sensory neuropathy type 1; X-linked HSAN with deafness
Alt IDs: OMIM:300614, ORDO:139583
Definition: 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.