These four patients presented postaxial polydactyly (3bINP-021), craniosynostosis (3bINP-054), cystinosis with unexplainable and progressive renal failure despite adequate cysteamine treatment (3bINP-082), and G6PD deficiency (3bINP-085), which were confirmed when pathogenic variants were identified in the GLI3, FGFR2, COL4A5, and G6PD genes, respectively (Table 4). This evidence concerns the gene COL4A5 and cystinosis.