TGex analysis (LifeMap Sciences, USA) prioritized 9 candidate variants across 7 genes (MED13, POGZ, SETBP1, SCN9A, SCO1, APTX, TIE1) associated with phenotypes including congenital megacolon, intellectual disability, motor delay, and developmental delays. The gene discussed is SETBP1; the disease is Hirschsprung disease.