AIFM1 and auditory neuropathy: The phenotype associated with the AUNX1-causing AIFM1 p.R451Q mutation is characterised by childhood-onset ANSD and delayed peripheral sensory neuropathy presenting as extremity numbness, unsteadiness and areflexia.25 This clinical picture was seen with the other familial cases of AIFM1 ANSD (0223, 7170, 2724 and 2423) and in some patients with sporadic AIFM1 ANSD (table 1 and online supplementary table S9).