ORPHA:79324
ALG12-CDG
Also called Congenital disorder of glycosylation type Ig, Mannosyltransferase 8 deficiency, CDG syndrome type Ig, CDG-Ig, CDG1G, Carbohydrate deficient glycoprotein syndrome type Ig, Congenital disorder of glycosylation type 1g
- 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:79324 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Abnormality of the genitourinary system
- Abnormality of the coagulation cascade
- Progressive microcephaly
- Delayed speech and language development
- Abnormal peripheral nervous system morphology
- Intellectual disability