In contrast to the IFT122-affected CED patients with skeletal abnormalities and other defects as well as to the ift122 null zebrafish larvae model where the development of cystic kidneys was detected, similar extra-ocular manifestations were not observed in the LHs homozygous for the p.(R1059H) variant. The gene discussed is IFT122; the disease is cranioectodermal dysplasia.