Among the accessory factors, recessive pathogenic variants in TMCO1 underlie cerebrofaciothoracic dysplasia (MIM: 213980)11, 12, 13 and recessive pathogenic variants in CCDC47 are responsible for trichohepatoneurodevelopmental syndrome (THNS [MIM: 618268]).14 The gene discussed is TMCO1; the disease is trichohepatoneurodevelopmental syndrome.