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X-linked deafness 5
Summary
- Synonym
-
- 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
- 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.
- Super Class
- X-linked recessive disease neuropathy
External Links
- Disease Ontology
- DOID:0111741
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95831 | Apoptosis-inducing factor 1, mitochondrial |
