Recent studies have shown complex multisystem conditions can be a result from blending of two distinct genetic disorders.30, 31, 32, 33 In that respect, we note that 258094 also harboured compound heterozygous variants in PKHD1 (predicting p.(P2319Q); p.(D3923fs*8), NM_138694.3). This evidence concerns the gene PKHD1 and hereditary disease.