— Hyperphosphatasia with mental retardation syndrome type 4 (HPMRS4), also known as PGAP3 deficiency, is a rare genetic condition that affects various parts of the body, including the brain. This disorder is part of a group of diseases known as glycosylphosphatidylinositol (GPI) biosynthesis defects, which are characterized by intellectual disability, seizures, and skeletal abnormalities due […]











