Of the remaining eight variants, two variants were also detected in disease-related genes: p.G204R in HDAC4 for brachydactyly-mental retardation syndrome [15], and p.276del in CCND1 constituting a susceptibility factor for colorectal cancer and a modifier for von Hippel-Lindau disease [16], [17]. This evidence concerns the gene HDAC4 and brachydactyly.