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PIGU deficiency is a rare genetic disease characterized by intellectual disability, developmental delay, epilepsy, muscular hypotonia, cerebellar hypoplasia, cerebral atrophy, and bone abnormalities such as osteopenia and scoliosis. It is caused by germline mutations in the PIGU gene which is important for glycosylphosphatidylinositol (GPI) anchor biosynthesis. Cell surface protein can be attached to the cell membrane via GPI anchor, and so mutations in PIGU lead to the decreased levels of GPI-anchored proteins (GPI-APs). GPI-APs play vital roles in numerous biological processes, such as neuronal development. The prevalence of PIGU deficiency is unknown as it is recently recognized disease.