Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)

Hyperphosphatasia with Impaired Intellectual Development Syndrome 3, also known as glycosylphosphatidylinositol biosynthesis defect 8, is related to precocious puberty, male-limited and hypotonia. An important gene associated with Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 is PGAP2 (Post-GPI Attachment To Proteins 2). Affiliated tissues include brain and bone marrow, and related phenotypes are seizure and wide nasal bridge