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

Congenital disorder of glycosylation, type IIy

Synonyms
CDG IIy

Summary

Congenital disorder of glycosylation type IIy (CDG2Y) is an autosomal recessive multisystemic congenital disorder characterized by poor overall growth and global developmental delay with impaired intellectual development. Other features may include hypotonia, seizures, brain imaging abnormalities, dysmorphic features, and various skeletal defects. Laboratory studies show a subtle type II glycosylation defect of serum transferrin (Tambe et al., 2020). For a general discussion of CDGs, see CDG1A (212065). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C7orf20, CDG2Y, CEE, CGI-20, TRC35, GET4
    Summary: guided entry of tail-anchored proteins factor 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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