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