" /> Congenital disorder of deglycosylation 1 - CISMeF





Preferred Label : Congenital disorder of deglycosylation 1;

Symbol : CDDG1;

CISMeF acronym : CDDG; CDG1V;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDG1V; Congenital disorder of glycosylation, type iv; Congenital disorder of deglycosylation; CDDG;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the N-glycanase 1 gene (NGLY1, 610661.0001);

Laboratory abnormalities : Increased blood lactate (in some patients); Elevated alpha-fetoprotein (in some patients);

Prefixed ID : #615273;

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03/05/2025


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