Hyperphosphatasia with Impaired Intellectual Development Syndrome 4 (HPMRS4)

Hyperphosphatasia with Impaired Intellectual Development Syndrome 4(来自ICD-11)

别称:

Glycosylphosphatidylinositol Biosynthesis Defect 10

Gpibd10

Hpmrs4

Hyperphosphatasia, with Mental Retardation Syndrome, Type 4

Hyperphosphatasia with Intellectual Disability Syndrome 4

Hyperphosphatasia with Mental Retardation Syndrome 4

Hyperphosphatasia with Mental Retardation Syndrome 6

Glycosylphosphatidylinositol Biosynthesis Defect 62

Gpibd62

Hpmrs6

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hyperphosphatasia with Impaired Intellectual Development Syndrome 4, also known as glycosylphosphatidylinositol biosynthesis defect 10, is related to hyperphosphatasia with impaired intellectual development syndrome 6 and hypotonia. An important gene associated with Hyperphosphatasia with Impaired Intellectual Development Syndrome 4 is PGAP3 (Post-GPI Attachment To Proteins Phospholipase 3). Affiliated tissues include bone marrow and cerebellum, and related phenotypes are hypotonia and global developmental delay

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