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GTR Home > Conditions/Phenotypes > ALG2-congenital disorder of glycosylation


Congenital disorder of glycosylation type Ii (CDG1I) is a rare autosomal recessive disorder characterized by neurologic involvement, including a convulsive syndrome of unknown origin, axial hypotonia, and mental and motor regression (summary by Papazoglu et al., 2021). For a general discussion of CDGs, see CDG1A (212065). [from OMIM]

Available tests

38 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: CDG1I, CDGIi, CMS14, CMSTA3, NET38, hALPG2, ALG2
    Summary: ALG2 alpha-1,3/1,6-mannosyltransferase

Clinical features


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