The variant p.Gly651Glu, harbouring in the DNAI1 gene (NM_012144.4:c.1952G>A), is associated with a form of Ciliary Dyskinesia with or without situs inversus (OMIM #244400); the second one, p.Gly532Arg, in the TJP2 gene (NM_004817.4:c.1594G>A), accounts for progressive familial intrahepatic cholestasis (OMIM #615878). Here, DNAI1 is linked to familial intrahepatic cholestasis.