Recent studies described 22 affected individuals with bi‐allelic variants in the phosphatidylinositol 4‐kinase alpha gene (PI4KA, OMIM *600286) causing a spectrum of neurodevelopmental disorder (NDD), brain malformations, contractures, hypomyelinating leukodystrophy, inflammatory bowel disease (IBD), and primary immunodeficiency (PID).6, 7, 8. The gene discussed is PI4KA; the disease is neurodevelopmental disorder.