In humans, homozygous loss-of-function mutations in the ICK gene cause endocrine-cerebro-osteodysplasia syndrome, an autosomal recessive ciliopathy showing neonatal lethality with various developmental defects involving the endocrine, cerebral, and skeletal systems, and short rib-polydactyly syndrome, an autosomal recessive ciliopathy characterized by perinatal lethality with short ribs, shortened and hypoplastic long bones, polydactyly, and multiorgan system abnormalities (46, 47, 48). Here, CILK1 is linked to ciliopathy.