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GTR Home > Conditions/Phenotypes > Hyperphosphatasia with intellectual disability syndrome 6

Hyperphosphatasia with intellectual disability syndrome 6

Synonyms
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12; HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6

Summary

Hyperphosphatasia with impaired intellectual development syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). [from OMIM]

Available tests

8 tests are in the database for this condition.

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Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HPMRS6, PIG-Y, PIGY
    Summary: phosphatidylinositol glycan anchor biosynthesis class Y

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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