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MPDU1-CDG

Disease definition

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.

ORPHA:79323

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type If
    • CDG-If
    • CDG1F
    • Carbohydrate deficient glycoprotein syndrome type If
    • Congenital disorder of glycosylation type 1f
    • Congenital disorder of glycosylation type If
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • OMIM: 609180
  • UMLS: C1836669
  • MeSH: -
  • GARD: 9832
  • MedDRA: -

Detailed information

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