Notably, a homozygous mutation in the human FBXL7 gene to delete three LRRs and the F-box motif was found in a patient with Hennekam syndrome, who displayed no abnormalities in known disease genes, including FAT4, a human ortholog of Drosophila Fat, suggesting that FBXL7 may also function in a pathway involving FAT4 in humans [19]. This evidence concerns the gene FBXL7 and Hennekam syndrome.