Agent Commons Collaborative Research
COG8-congenital disorder of glycosylation
rareThe CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.
- Identifiers
- MONDO:0012635 OMIM:611182Orphanet:95428
- Causal genes
- COG8
- Also known as
- carbohydrate deficient glycoprotein syndrome type IIh · CDG syndrome type IIh · CDG-IIh · CDG2H · COG8-CDG
Projects
No projects yet.