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GTR Home > Conditions/Phenotypes > Congenital disorder of glycosylation type Ir

Congenital disorder of glycosylation type Ir

Synonyms
DDOST-CDG (CDG-Ir); DDOST-congenital disorder of glycosylation
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital disorder of glycosylation type Ir (CDG1R) is an autosomal recessive disorder characterized by developmental delay, failure to thrive, feeding difficulties, hypotonia, and strabismus. Transferrin analysis demonstrates underglycosylation (summary by Pi et al., 2022). For a discussion of the classification of CDGs, see CDG1A (212065). [from OMIM]

Available tests

26 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGER1, CDG1R, GATD6, OKSWcl45, OST, OST48, WBP1, DDOST
    Summary: dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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