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

Congenital disorder of glycosylation, type IIr

Synonyms
CDG IIr

Summary

Congenital disorder of glycosylation type 2R (CDG2R) is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some patients may also have mild intellectual impairment and dysmorphic features. Laboratory studies showed defective glycosylation of serum transferrin in a type 2 pattern (summary by Rujano et al., 2017). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066). [from OMIM]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: APT6M8-9, ATP6IP2, ATP6M8-9, CDG2R, ELDF10, HT028, M8-9, MRXE, MRXSH, MSTP009, PRR, RENR, XMRE, XPDS, ATP6AP2
    Summary: ATPase H+ transporting accessory protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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