Glycosylphosphatidylinositol Biosynthesis Defect 11 (GPIBD11)

Alias:

Hyperphosphatasia with Mental Retardation Syndrome 5

Gpibd11

Hpmrs5

Hyperphosphatasia with Impaired Intellectual Development Syndrome 5

Hyperphosphatasia with Mental Retardation Syndrome, Type 5

Hyperphosphatasia with Intellectual Disability Syndrome 5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Glycosylphosphatidylinositol Biosynthesis Defect 11, also known as hyperphosphatasia with mental retardation syndrome 5, is related to cleft palate, isolated, and has symptoms including tonic seizures An important gene associated with Glycosylphosphatidylinositol Biosynthesis Defect 11 is PIGW (Phosphatidylinositol Glycan Anchor Biosynthesis Class W), and among its related pathways/superpathways is 17q12 copy number variation syndrome. Related phenotypes are high palate and coarse facial features

Related ID：

MALACARDS：GLY106

OMIM：616025

MESH：D008607