Genotype-phenotype analysis of 605 <i>PKHD1</i> mutations revealed a trend suggesting that hepatobiliary manifestations might present with less severe mutational burden compared to renal phenotypes, and mild homozygous missense mutations or heterozygous states may attenuate or eliminate renal phenotypes.<h4>Conclusion</h4>This study uncovered novel PKHD1 mutations in an ARPKD patient, expanding the pathogenic gene spectrum of ARPKD and providing insights for genetic counseling and prenatal diagnosis. Here, PKHD1 is linked to autosomal recessive polycystic kidney disease.