| Metadata | |
|---|---|
| ID | DOID:0111741 |
| Name | X-linked deafness 5 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/16816020, https://www.ncbi.nlm.nih.gov/pubmed/25986071 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
AUNX1 [EXACT] DFNX5 [EXACT] X-linked auditory neuropathy 1 with peripheral sensory neuropathy [EXACT] X-linked auditory neuropathy with peripheral sensory neuropathy type 1 [EXACT] X-linked HSAN with deafness [EXACT] |
| Parent Relationships |
is_a neuropathy |