Hyperphosphatasia with Impaired Intellectual Development Syndrome 2 (HPMRS2)

Alias:

Glycosylphosphatidylinositol Biosynthesis Defect 6

Hpmrs2

Gpibd6

Hyperphosphatasia with Mental Retardation Syndrome 2

Hyperphosphatasia, with Mental Retardation Syndrome, Type 2

Hyperphosphatasia with Intellectual Disability Syndrome 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hyperphosphatasia with Impaired Intellectual Development Syndrome 2, is also known as glycosylphosphatidylinositol biosynthesis defect 6. An important gene associated with Hyperphosphatasia with Impaired Intellectual Development Syndrome 2 is PIGO (Phosphatidylinositol Glycan Anchor Biosynthesis Class O). Affiliated tissues include bone marrow and heart, and related phenotypes are intellectual disability and hypotonia

Related ID：

MALACARDS：HYP890

OMIM：614749

MESH：D008607