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). The gene discussed is AIFM1; the disease is X-linked hereditary sensory and autonomic neuropathy with deafness.