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GTR Home > Conditions/Phenotypes > COG1 congenital disorder of glycosylation

Summary

An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. [from SNOMEDCT_US]

Available tests

29 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: CDG2G, LDLB, COG1
    Summary: component of oligomeric golgi complex 1

Clinical features

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