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COG5-CDG

Disease definition

COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.

ORPHA:263487

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type IIi
    • CDG-IIi
    • CDG2I
    • Carbohydrate deficient glycoprotein syndrome type IIi
    • Congenital disorder of glycosylation type 2i
    • Congenital disorder of glycosylation type IIi
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E77.8
  • OMIM: 613612
  • UMLS: -
  • MeSH: -
  • GARD: 12348
  • MedDRA: -

Detailed information

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