These phenotypes are similar to those associated with alleles in other components of the AIRIM complex, including AFG2A, AFG2B and CINP20–23,25,26,32, and are predominantly associated with global developmental delay, intellectual disability, microcephaly, infantile seizures, muscular hypotonia, limb spasticity, dystonia and feeding problems, as well as hearing and vision impairment (Fig. 2d provides a comparative summary). Here, AFG2B is linked to Dystonia.