Mabry syndrome

A rare genetic disorder, also known as hyperphosphatasia with mental retardation syndrome (HPMRS), characterized by intellectual disability, elevated blood levels of alkaline phosphatase, distinctive facial features, low muscle tone, and sometimes seizures or organ involvement. So far, it has been linked to pathogenic variants in genes involved in glycosylphosphatidylinositol (GPI) anchor biosynthesis or remodeling, including PIGV, PIGO, PIGW, PIGY, PGAP2, and PGAP3.