PMM2 and autosomal recessive polycystic kidney disease: Most of the cases of ARPKD are caused by variants in the PKHD1 gene, although patients with variants in additional genes (e.g., DZIP1L encoding DAZ interacting protein 1-like, PMM2 encoding Phosphomannomutase 2) leading to an ARPKD phenotype have been described [6,18].