Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:280071

ALG11-CDG

Also called CDG syndrome type Ip, CDG-Ip, CDG1P, Carbohydrate deficient glycoprotein syndrome type Ip, Congenital disorder of glycosylation type 1p, Congenital disorder of glycosylation type Ip

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:280071 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Intellectual disability
  • Seizure
  • Global developmental delay
  • Abnormal isoelectric focusing of serum transferrin
  • Type I transferrin isoform profile
  • Floppy infant