The hypomorphic hemizygous non-mosaic EBP variants cause MEND syndrome in males who are born to clinically asymptomatic heterozygous mothers whereas null EBP variants are associated with intrauterine lethality in males and a severe X-linked dominant phenotype in females known as human chondrodysplasia punctata 2 (CDPX2; Conradi-Hünermann-Happle syndrome) [7, 8 ]. The gene discussed is EBP; the disease is MEND syndrome.