COG5-congenital disorder of glycosylation
MONDO:0013325COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
Also known as: CDG syndrome type III, CDG-III, CDG2I, COG5-CDG, COG5-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type III, congenital disorder of glycosylation type 2i, congenital disorder of glycosylation type III
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Disease
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Metabolic disease
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Hereditary disease
(176)
Inborn errors of metabolism
(45)
Syndromic disease
(25)
Human disease
(14)
Congenital disorder of glycosylation
(7)
Disease of genetic or genomic mechanism
(2)
Congenital disorder of glycosylation type II
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Defect in conserved oligomeric Golgi complex
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