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GTR Home > Conditions/Phenotypes > COG4-congenital disorder of glycosylation


An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the single reported case to date, seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia. [from SNOMEDCT_US]

Available tests

19 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: CDG2J, COD1, SWILS, COG4
    Summary: component of oligomeric golgi complex 4

Clinical features


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