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

COG4-congenital disorder of glycosylation

Synonyms
CDG IIj; COG4-CDG; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; Congenital disorder of glycosylation type 2J
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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.

Clinical tests (19 available)

Molecular Genetics 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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Imported from Human Phenotype Ontology (HPO)

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