One proband, participant #48, has two homozygous, protein-truncating variants in the candidate ciliopathy genes LRRC45, a protein associated with distal appendages of the basal body that contributes to early steps of axoneme extension during ciliogenesis,33 and CFAP45, a coiled coil domain protein and expressed in nasopharyngeal epithelium and trachea.34 This evidence concerns the gene CFAP45 and ciliopathy.