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PIGO deficiency is caused by germline mutation in PIGO. PIGO is the enzyme which attaches ethanolamine phosphate to the third mannose of GPI. Through this ethanolamine, GPI is attached to C-terminal of the precursor protein by GPI transamidase complex. GPI-APs serve critical functions as adhesion molecules, receptors, complement regulators, enzymes and co-receptors in signal transduction pathways. The main clinical features of PIGO deficiency are 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. The prevalence of PIGO deficiency is unknown as it is recently recognized disease, but there have been over 25 patients reported. The PIGO gene is located on chromosome 9p13.3, and PIGO deficiency is autosomal recessive disorder. PIGO is one of the responsible genes for Mabry syndrome (HPMRS, Hyperphosphatasia and mental retardation syndrome).