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