None of them showed the VCFS/DGS episignature (Figure S11), including two cases (GM151544 and GM191550) with distal low-copy-number repeat sequence (LCR)-DE deletions that included TOP3B (OMIM∗ 603582), which is associated with cognitive impairment and facial dysmorphisms.33 The gene discussed is TBX1; the disease is Cognitive impairment.