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