COG4-congenital disorder of glycosylation

MONDO:0013281

COG4-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

26 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Congenital disorder of glycosylation (6) 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)

Trials to join now! 14 Not yet recruiting 3 Not yet finished but already full! 3 Completed 6

COG4-congenital disorder of glycosylation

Broader categories

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