PGVs were observed in PSEN1 (1x), PSEN2 (2x), NOTCH3 (3x), MAPT (1x), HTRA1(1x), CTSF (2x compound heterozygote), AMACR (1x compound heterozygote, specific test), AARS2 (2x compound heterozygote), and a duplication in the region 16q24.2q24.3 (specific test performed because of concomitant intellectual disability) (all variants are in eTable 5). The gene discussed is NOTCH3; the disease is Intellectual disability.