Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)

Alias:

Glycosylphosphatidylinositol Biosynthesis Defect 8

Hpmrs3

Gpibd8

Mental Retardation, Autosomal Recessive 17

Mrt17

Mrt21

Hyperphosphatasia, with Mental Retardation Syndrome, Type 3

Hyperphosphatasia with Intellectual Disability Syndrome 3

Hyperphosphatasia with Mental Retardation Syndrome 3

Mental Retardation, Autosomal Recessive 21

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hyperphosphatasia with Impaired Intellectual Development Syndrome 3, also known as glycosylphosphatidylinositol biosynthesis defect 8, is related to precocious puberty, male-limited and hypotonia. An important gene associated with Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 is PGAP2 (Post-GPI Attachment To Proteins 2). Affiliated tissues include brain and bone marrow, and related phenotypes are seizure and wide nasal bridge

Related ID：

MALACARDS：HYP889

OMIM：614207

MESH：D008607