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GTR Home > Conditions/Phenotypes > COG6-congenital disorder of glycosylation

COG6-congenital disorder of glycosylation

Synonyms
CDG IIl; COG6-CGD; COG6-ongenital disorder of glycosylation; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; Congenital disorder of glycosylation type 2L
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015). For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066). [from OMIM]

Available tests

26 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG2L, COD2, SHNS, COG6
    Summary: component of oligomeric golgi complex 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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