NGLY1 and Phelan-McDermid syndrome: The following genetic disorders seem to be associated with CVI: Down syndrome (trisomie 21), 1p36 deletion syndrome, 17p13.3 deletion syndrome (Miller-Dieker syndrome), 22q13.3 deletion syndrome (Phelan-McDermid syndrome), CDG type 1a, complex I deficiency, Lissencephaly (gene DCX), Pelizaeus-Merzbacher syndrome (gene PLP1), atypical Rett syndrome (gene CDKL5), NGLY1, AHDC1, NR2F1, PGAP1and tuberous sclerosis. (Bosch et al., 2014a,b, 2016; Wan et al., 2019; Wilton et al., 2021)