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PIGO deficiency is a rare genetic disease characterized by intellectual disability, developmental delay, epilepsy, facial dysmorphisms, muscular hypotonia, hyperphosphatasia and in severe cases, with ichthyosis, hearing loss and multiorgan anomalies such as Hirschsprung disease, diaphragmatic hernia, gastrointestinal atresia, cardiac and renal involvement. It is caused by germline mutations in the PIGO 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 PIGOlead 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 PIGO deficiency is unknown as it is recently recognized disease, but there have been over 25 patients reported.