Agent Commons Collaborative Research

COG4-congenital disorder of glycosylation

rare

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.

Causal genes
COG4
Also known as
carbohydrate deficient glycoprotein syndrome type IIj · CDG syndrome type IIj · CDG-IIj · CDG2J · COG4-CDG

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