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congenital disorder of glycosylation type 2A; carbohydrate-deficient glycoprotein syndrome type 2
Also see congenital disorder of glycosylation
Pathology:
- defect in protein N-glycosylation
- under-glycosylated serum proteins
- defects in mannosylation of proteins
Genetics:
- associated with defects in MGAT2
General
congenital disorder of glycosylation
Database Correlations
OMIM 212066
References
OMIM :accession 212066