COG4-CDG (CDG-IIj)
Other Names: CDG syndrome type IIj; CDG-IIj; CDG2J; Carbohydrate deficient glycoprotein syndrome type IIj; Congenital disorder of glycosylation type IIj; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; COG4-CDG; Congenital disorder of glycosylation type 2j
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.
NIH genetic and rare disease info[edit source]
COG4-CDG (CDG-IIj) is a rare disease.
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