Some patients had LP/P variants in genes linked not only to hereditary cancers but also to syndromic developmental conditions with a broader phenotype, such as tuberous sclerosis (TSC1) (Randle, 2017), Hirschsprung disease (PHOX2B) (Fernández et al., 2013), congenital anomalies of the kidney (WT1) (Lopez-Gonzalez and Ariceta, 2024), and RASopathies such as Legius syndrome (SPERD1), Noonan syndrome (LZTR1), and neurofibromatosis 1 (NF1) (Juchnewitsch et al., 2024). The gene discussed is TSC1; the disease is Hirschsprung disease.