These include IHH involved in skeletal malformations, ROBO3 involved in horizontal gaze palsy with progressive scoliosis, PCSK9 involved in familial hypercholesterolemia, FAM83H related to amelogenesis imperfecta type 3 and GJA3 associated with congenital cataracts. This evidence concerns the gene ROBO3 and familial hypercholesterolemia.