Hyperphosphatasia with Impaired Intellectual Development Syndrome 1 (HPMRS1)

Hyperphosphatasia with Impaired Intellectual Development Syndrome 1, also known as glycosylphosphatidylinositol biosynthesis defect 2, is related to hyperphosphatasia with impaired intellectual development syndrome and hyperphosphatasia-intellectual disability syndrome, and has symptoms including seizures An important gene associated with Hyperphosphatasia with Impaired Intellectual Development Syndrome 1 is PIGV (Phosphatidylinositol Glycan Anchor Biosynthesis Class V), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include bone marrow and bone.