PRKD1 and ablepharon macrostomia syndrome: We also observed important skeletal biology-related genes at suggestive loci, with these genes including TWIST2 (Ablepharon-macrostomia syndrome and Barber-Say syndrome [OMIM 200110 and 209885, respectively], which show premature osteoblast differentiation and growth retardation [27–29]), HDAC4 (“osteoblast differentiation and development”) [30, 31], PRKD1 (“positive regulation of osteoclast development”) [32], HMG20B (“osteoblast differentiation and development”), and SOX11 (Coffin-Siris syndrome 9 [OMIM 615866] in which there is abnormal skeletal morphology) [33].