Among these datasets, two are phenocopies of AOA2, ataxia-telangiectasia (A-T) and Friedreich’s ataxia (FRDA)(McGrath-Morrow et al. 2020; Napierala et al. 2017), while the third dataset represented an unrelated neurodegenerative disorder, Phelan-McDermid syndrome (PMS) (Breen et al. 2023; Jesse et al. 2023). Here, SETX is linked to Phelan-McDermid syndrome.