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

0 clinical trials for this condition and its sub-types, 0 tagged with COG4-congenital disorder of glycosylation itself.

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↑ Congenital disorder of glycosylation type II (3) ↑ Defect in conserved oligomeric Golgi complex (0)

Including sub-types (0) Tagged with COG4-congenital disorder of glycosylation (0)

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