X-linked deafness 5

Term ID

DOID:0111741

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. (2)

References

• OMIM:300614
• ORDO:139583

Ontology

Human Disease   ( DOID:0111741 )