For ALDH18A1 the homozygous variant: c.1499G > T; p.(Gly500Val) was reclassified in patient P13 presenting with features of CL; for COL5A1, the (c.1884_1891del; p.(Asp629Phefs16Ter)) nonsense variant was reclassified in patient P14 presenting with classical EDS. The gene discussed is COL5A1; the disease is Ehlers-Danlos syndrome.