PTRHD1 and ciliopathy: Of note, a dual molecular diagnosis is observed in the patient 13DG0792, who is homozygous for the founder variant PTRHD1 and a ciliopathy phenotype (Caroli disease) caused by the variant WDR35 [NM_001006657.1:c.206G>A; p.(Gly69Asp)] as described before (Shaheen et al., 2016).