SLC3A1 and ablepharon macrostomia syndrome: In two adults patients (AMS and BDA), we detected biallelic likely pathogenic variants in SLC3A1 and LRP2 genes whose mutations are responsible for the recessive diseases Cystinuria (MIM#220100) and Donnai–Barrow/Facio-oculo-acoustico-renal syndrome (DB/FOAR, MIM#222448), respectively.