ALDH18A1 and connective tissue disorder: In the group of connective tissue disorders, we identified new compound heterozygous or homozygous class 4 or 5 variants in patients presenting with Cutis Laxa: GORAB (c.546A > T; p.(Glu182Asp)) and c.859C > T; p.(Arg287Ter)) for patient P5 and an homozygous novel variant in ALDH18A1 (c.1499G > T; p.(Gly500Val)) for patient P13 (Table 1 and Fig. 4F1-F4).