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COG2-CDG

Disease definition

A rare, congenital disorder of glycosylation caused by mutations in the COG2 gene and characterized by 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.

ORPHA:435934

Classification level: Disorder
  • Synonym(s):
    • COG2-related congenital disorder of glycosylation
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: E77.8
  • OMIM: 617395
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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