Hyperphosphatasia With Intellectual Disability Syndrome 4

About the Disease
Hyperphosphatasia with Mental Retardation Syndrome 4, also known as hyperphosphatasia with intellectual disability syndrome 4, is related to hypotonia and cleft palate, isolated, and has symptoms including involuntary movements and myoclonic seizures. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 4 is PGAP3 (Post-GPI Attachment To Proteins Phospholipase 3). Affiliated tissues include bone marrow, cerebellum and heart, and related phenotypes are microcephaly and cleft palate

Common Targets
PGAP3 | PGAP2

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