Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:79321

ALG3-CDG

Also called CDG syndrome type Id, CDG-Id, CDG1D, Carbohydrate deficient glycoprotein syndrome type Id, Congenital disorder of glycosylation type 1d, Congenital disorder of glycosylation type Id, Mannosyltransferase 6 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:79321 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Hypotonia
  • Global developmental delay
  • Abnormal cerebral morphology
  • Recurrent infections
  • Abnormality of the gastrointestinal tract
  • Feeding difficulties