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COG4-CDG

Disease definition

COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

ORPHA:263501

  • Synonym(s):
    • CDG syndrome type IIj
    • CDG-IIj
    • CDG2J
    • Carbohydrate deficient glycoprotein syndrome type IIj
    • Congenital disorder of glycosylation type 2j
    • Congenital disorder of glycosylation type IIj
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • OMIM: 613489
  • UMLS: -
  • MeSH: -
  • GARD: 12412
  • MedDRA: -

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