" /> Congenital disorder of glycosylation, type II - CISMeF





Preferred Label : Congenital disorder of glycosylation, type II;

Symbol : CDG1I;

CISMeF acronym : CDG1I;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdg II; CDGIi;

Inheritance : Autosomal recessive;

Molecular basis : Cause by mutation in the homolog of the S. cerevisiae ALG2 gene (ALG2, 607905.0001);

Laboratory abnormalities : Increased di- and asialo-transferrin characteristic of type 1 pattern;

Prefixed ID : #607906;

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03/05/2025


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