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GTR Home > Conditions/Phenotypes > Hyperphosphatasia with intellectual disability syndrome 5

Hyperphosphatasia with intellectual disability syndrome 5

Synonyms
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11

Summary

GPIBD11 is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, and variable seizures. Some patients may have dysmorphic features or increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Hogrebe et al., 2016). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). [from OMIM]

Available tests

11 tests are in the database for this condition.

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Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Gwt1, HPMRS5, PIGW
    Summary: phosphatidylinositol glycan anchor biosynthesis class W

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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