DDOST-congenital disorder of glycosylation
MONDO:0013789DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).
Also known as: CDG syndrome type Ir, CDG-Ir, CDG1R, DDOST-CDG, DDOST-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type Ir, congenital disorder of glycosylation type 1r, congenital disorder of glycosylation type Ir
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Disease
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Metabolic disease
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Hereditary disease
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Inborn errors of metabolism
(45)
Human disease
(14)
Congenital disorder of glycosylation
(7)
Disease of genetic or genomic mechanism
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Glycoprotein metabolism disease
(1)
Congenital disorder of glycosylation type I
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Disease by developmental or physiological process
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