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COG8-CDG

Disease definition

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.

ORPHA:95428

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type IIh
    • CDG-IIh
    • CDG2H
    • Carbohydrate deficient glycoprotein syndrome type IIh
    • Congenital disorder of glycosylation type 2h
    • Congenital disorder of glycosylation type IIh
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E77.8
  • OMIM: 611182
  • UMLS: C1970021
  • MeSH: -
  • GARD: 12411
  • MedDRA: -

Detailed information

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