Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:79326

ALG2-CDG

Also called CDG syndrome type Ii, CDG-Ii, CDG1I, Carbohydrate deficient glycoprotein syndrome type Ii, Congenital disorder of glycosylation type 1i, Congenital disorder of glycosylation type Ii, Mannosyltransferase 2 deficiency

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive
Typical age of onset
Infancy, Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:79326 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Type I transferrin isoform profile
  • Abnormal enzyme/coenzyme activity
  • Microcephaly
  • Epicanthus
  • Wide nasal bridge
  • Downslanted palpebral fissures