The first patient with phenotypic abnormalities of Cat Eye Syndrome (CES, MIM #115470), OAVS, and CFM had more than one responsible gene: BCL2L13, BID, CECR1-CECR7, FLJ41941, GAB4, HSFY1P1, IL17RA, MICAL3, MIR3198, MIR648, PEX26, SLC25A18, TUBA8e, USP18, and XKR3. The second patient with phenotypic abnormalities of CFM syndrome showed variants in PLA2G4A and C1orf99 genes. The gene discussed is USP18; the disease is cat-eye syndrome.