Hyperphosphatasia with Impaired Intellectual Development Syndrome (HPMRS)

Hyperphosphatasia with Impaired Intellectual Development Syndrome, also known as hyperphosphatasia with mental retardation syndrome, is related to hyperphosphatasia with impaired intellectual development syndrome 1 and hyperphosphatasia-intellectual disability syndrome. An important gene associated with Hyperphosphatasia with Impaired Intellectual Development Syndrome is PGAP2 (Post-GPI Attachment To Proteins 2), and among its related pathways/superpathways is Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include heart and bone, and related phenotypes are upslanted palpebral fissure and thin upper lip vermilion