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GTR Home > Conditions/Phenotypes > Congenital disorder of glycosylation, type iit

Congenital disorder of glycosylation, type iit

Synonyms
CDG IIt

Summary

Congenital disorder of glycosylation type IIt (CDG2t) is an autosomal recessive multisystemic metabolic disorder characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities. Most patients develop early-onset seizures; brain imaging tends to show white matter abnormalities. Variable dysmorphic features, including long face, almond-shaped eyes, protruding maxilla, and short philtrum, are also present. The disorder, which is associated with low levels of HDL cholesterol, results from defective posttranslational O-linked glycosylation of certain plasma lipids and proteins (summary by Zilmer et al., 2020). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG2T, GalNAc-T2, GALNT2
    Summary: polypeptide N-acetylgalactosaminyltransferase 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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