In humans, two homozygous loss-of-function mutations in ICK gene, R272Q and G120C, are associated with endocrine-cerebro-osteodysplasia (ECO) syndrome, an autosomal recessive ciliopathy characterized by neonatal lethality with multiple defects involving the endocrine, cerebral, and skeletal systems (31, 45). This evidence concerns the gene CILK1 and ciliopathy.