OFD1 and ciliopathy: It is possible that the exon 20 frameshift variant identified in participant #32 could just explain part of his phenotype, for example, his PCD-like respiratory disease, in keeping with the published literature.32 37 Conversely, retinal dystrophy may be an additional feature, as has been reported in association with X linked recessive JBTS caused by pathogenic OFD1 variants in affected males.39 We therefore suggest that individuals with a suspected OFD1-associated ciliopathy undergo a formal ophthalmological assessment to strengthen the diagnosis.