Orphanet: CCDC115 CDG

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Disease definition

A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia, and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia, and low serum ceruloplasmin.


Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type IIo
    • CDG-IIo
    • CDG2O
    • Carbohydrate deficient glycoprotein syndrome type IIo
    • Congenital disorder of glycosylation type 2o
    • Congenital disorder of glycosylation type IIo
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: E77.8
  • OMIM: 616828
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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