Additionally, two additional cases involving a fetus and an 8-month-old patient, both of whom presented with remarkably similar phenotypes, including megalencephaly and postaxial polydactyly, with neuroblastoma observed in the latter, is documented to have heterozygous GoF MYCN variants, namely p.(Thr58Met) and p.(Pro60Leu) (35). The gene discussed is MYCN; the disease is neuroblastoma.