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

Congenital disorder of glycosylation, type IIq

Synonyms
CDG IIq
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare congenital disorder of glycosylation caused by mutations in the COG2 gene and with characteristics of normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI. [from SNOMEDCT_US]

Available tests

5 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG2Q, LDLC, COG2
    Summary: component of oligomeric golgi complex 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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