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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
  • ICD-11: 5C54.2
  • OMIM: 611209
  • UMLS: C2931011
  • MeSH: C535756
  • GARD: 10226
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.