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congenital disorder of glycosylation type 1i
Also see congenital disorder of glycosylation
Genetics:
- associated with mutation in gene for ALG2
Related
alpha-1,3/1,6-mannosyltransferase ALG2; asparagine-linked glycosylation protein 2 homolog; GDP-man:man(1)GlcNAc(2)-PP-dol alpha-1,3-mannosyltransferase; GDP-man:man(1)GlcNAc(2)-PP-dolichol mannosyltransferase; GDP-man:man(2)GlcNAc(2)-PP-dol alpha-1,6-mannosyltransferase (ALG2)
General
congenital disorder of glycosylation
Database Correlations
OMIM 607906
References
OMIM :accession 607906