Mabry Syndrome

About the Disease
Hyperphosphatasia with Mental Retardation Syndrome 1, also known as hyperphosphatasia with intellectual disability syndrome 1, is related to hyperphosphatasia-intellectual disability syndrome and west syndrome, and has symptoms including seizures An important gene associated with Hyperphosphatasia with Mental Retardation 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, heart and bone, and related phenotypes are upslanted palpebral fissure and thin upper lip vermilion

Common Targets
PIGL | PIGW | PIGQ | PGAP3 | PIGV | PIGT | PGAP2

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