ALDH18A1 and cutis laxa: Raw data reanalysis including hypermobility among the HPO terms, facilitated the discovery of a second class 4 homozygous variant in the ALDH18A1 gene (NM_002860.4: c.121 C>T, p.Arg41Cys), which is highly conserved (pyloP100: 6.656), absent in homozygosity in large databases, including gnomaD, and associated with cutis laxa, and thus explaining the full clinical picture.