This is based on the finding of the molar tooth sign, considered pathognomonic for Joubert syndrome, the previously demonstrated role of CLUAP1 variants in Leber congenital amaurosis (a known ciliopathy), biallelic variants that are rare but are predicted to be pathogenic, and functional analysis showing decreased IFT in a validated Xenopus model system. The gene discussed is IFT38; the disease is ciliopathy.