AIFM1 (OMIM: 300169) has been associated with X-linked deafness-5 with peripheral neuropathy (DFNX5, OMIM: 300614), Cowchock syndrome (OMIM: 300169), and combined oxidative phosphorylation deficiency 6 (OMIM: 300816). This evidence concerns the gene AIFM1 and peripheral neuropathy.