OFD1 and ciliopathy: Seven of these reported cases overlap with participants described in ‘Congenital Malformations caused by Ciliopathies’ cohort analyses.28 Interestingly, male participant #32 was reported ‘solved’ with a pathogenic hemizygous OFD1 frameshift variant in exon 20/23 (NM_003611.3:c.2680_2681del, NP_003602.1:p.(Glu894ArgfsTer6)).