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GTR Home > Conditions/Phenotypes > Congenital disorder of glycosylation, type 2v

Congenital disorder of glycosylation, type 2v

Synonyms
Congenital disorder of glycosylation, type 2v

Summary

Congenital disorder of glycosylation type 2v (CDG2V) is an autosomal recessive disorder characterized by neurodevelopmental delay and variable facial dysmorphisms (Polla et al., 2021). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C1orf22, CDG2V, EDEM3
    Summary: ER degradation enhancing alpha-mannosidase like protein 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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