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CAD-CDG

Disease definition

A rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.

ORPHA:448010

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type Iz
    • CDG-Iz
    • CDG1Z
    • Carbohydrate deficient glycoprotein syndrome type Iz
    • Congenital disorder of glycosylation type 1z
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: E77.8
  • ICD-11: 5C54.2
  • OMIM: 616457
  • UMLS: C4225320
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

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Further information on this disease

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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.