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Diseases

Genetic and Rare Diseases Information Center (GARD)

PMM2-CDG (CDG-Ia)


Other Names for this Disease
  • CDG 1A
  • CDG1A
  • Jaeken syndrome
  • Carbohydrate-deficient glycoprotein syndrome type 1A
  • Phosphomannomutase 2 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

On this page
Other Names for this Disease
  • CDG 1A
  • CDG1A
  • Jaeken syndrome
  • Carbohydrate-deficient glycoprotein syndrome type 1A
  • Phosphomannomutase 2 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.