Search
congenital disorder of glycosylation type 2G (CDG2G)
Also see congenital disorder of glycosylation
Pathology:
- defect in O-glycosylation as well as N-glycosylation
Genetics:
- associated with defects in COG1
Clinical manifestations:
- failure to thrive,
- generalized hypotonia
- growth retardation
- mild psychomotor retardation
General
congenital disorder of glycosylation
Database Correlations
OMIM 266265
References
UniProt :accession Q8WTW3