Based on the clinical overlap between ECO syndrome and these other ciliopathies, and recent in vitro and mouse studies [5, 6] that showed that ICK is a ciliary protein, we tested whether either mutation (p.G120C or p.R272Q) affects cilium presence, morphology, and function in ciliated mouse Inner Medullary Collecting Duct 3 (mIMCD3) cells and in skin fibroblasts derived from a p.R272Q patient with ECO syndrome. This evidence concerns the gene CILK1 and endocrine-cerebro-osteodysplasia syndrome.