Hyperphosphatasia Mental Retardation syndrome (HPMRS, MIM 239300, MIM 214749, and MIM 614207), also known as Mabry syndrome, was found to be associated with PIGV (MIM 610274), PIGO (MIM 614730),PGAP2 (MIM 615187) and PGAP3 (MIM 611801) mutations [38-42]. The gene discussed is PGAP2; the disease is hyperphosphatasia-intellectual disability syndrome.