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GTR Home > Conditions/Phenotypes > ALG9 congenital disorder of glycosylation

ALG9 congenital disorder of glycosylation

Synonyms
ALG9-CDG; ALG9-CDG (CDG-IL); CDG 1L; CDG Il; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital disorders of glycosylation (CDGs) that represent defects of dolichol-linked oligosaccharide assembly are classified as CDG type I. For a general description and a discussion of the classification of CDGs, see CDG1A (212065). [from OMIM]

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1L, DIBD1, GIKANIS, LOH11CR1J, ALG9
    Summary: ALG9 alpha-1,2-mannosyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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