Term Name: | X-linked deafness 5 |
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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 |
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. |
Ontology: | Human Disease [DOID:0111741] ( DOID:0111741 ) |