COG4-congenital disorder of glycosylation
MONDO:0013281COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.
Also known as: CDG syndrome type IIj, CDG-IIj, CDG2J, COG4-CDG, COG4-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type IIj, congenital disorder of glycosylation type 2j, congenital disorder of glycosylation type IIj
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Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Congenital disorder of glycosylation
(7)
Disease of genetic or genomic mechanism
(2)
Congenital disorder of glycosylation type II
(0)
Defect in conserved oligomeric Golgi complex
(0)
Disease by developmental or physiological process
(0)
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