Most of the pathogenic variants were identified in genes with well-established roles in IBMFS, including FANCA, FANCG, RPS19, SBDS, GATA2, DKC1, and ELANE. Less commonly observed genes, such as G6PC3 and VPS13B, have also been previously associated with congenital neutropenia and syndromic disorder, including Cohen syndrome. The gene discussed is SBDS; the disease is Cohen syndrome.