In a recent screen for large CNVs (>400 kb) performed on 15,767 children with ID and various congenital defects, and 8,329 unaffected adult controls [20], deletions affecting CYFIP1, NIPA1, NIPA2 and TUBGCP5 were associated with neurodevelopmental disorder (P = 4.73×10−6), epilepsy (P = 1.48×10−3) and autism (P = 1.99×10−2). The gene discussed is NIPA1; the disease is neurodevelopmental disorder.