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COG1-CDG

Disease definition

COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

ORPHA:263508

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type IIg
    • CDG-IIg
    • CDG2G
    • Carbohydrate deficient glycoprotein syndrome type IIg
    • Congenital disorder of glycosylation type 2g
    • Congenital disorder of glycosylation type IIg
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • OMIM: 611209
  • UMLS: C2931011
  • MeSH: -
  • GARD: 10226
  • MedDRA: -

Detailed information

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