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

Congenital disorder of glycosylation, type IIz

Synonyms
CDG IIz

Summary

Congenital disorder of glycosylation type IIz (CDG2Z) is an autosomal recessive disorder characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities. Serum transferrin shows a type 2 pattern of glycosylation abnormalities with a combined N- and O-glycosylation defect (Wilson et al., 2022). For a general discussion of CDGs, see CDG1A (212065). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CAML, CDG2Z, GET2, CAMLG
    Summary: calcium modulating ligand

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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