In addition, we identified another HSCR patient who carries the variant p.Thr360Ile in CDK5RAP2 and also the variant c.2155_2157delAAC:p.Asn720del in SULF1. This could suggest that these variants here identified may be contributing to the final phenotype, reinforcing the possible role of CDK5RAP2 and SULF1 in HSCR phenotype. Here, CDK5RAP2 is linked to Hirschsprung disease.