We described two affected siblings from our PARIS cohort with severe autism and intellectual disability who present axial T2-Flair weighted MRI posterior periventricular white matter hypersignals accompanied by a rare heterozygous deletion of 16q22.3-q23.1 overlapping FA2H. No additional patients with a CNV encompassing FA2H were identified among the 996 AGP patients with ASD [12] or the additional sample from the PARIS cohort (n = 260) (1/1256, 0.08%). Here, ATP5MK is linked to Intellectual disability.