COG4-congenital disorder of glycosylation
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.
MONDO:0005501
congenital disorder of glycosylation type II
is_a
MONDO:0017750
defect in conserved oligomeric Golgi complex
is_a
CDG syndrome type IIj
exact
CDG-IIj
exact
CDG2J
exact
COG4-CDG
exact
COG4-CDG (CDG-IIj)
related
COG4-congenital disorder of glycosylation
exact
carbohydrate deficient glycoprotein syndrome type IIj
exact
congenital disorder of glycosylation type 2j
exact
congenital disorder of glycosylation type IIj
exact
congenital disorder of glycosylation, type IIj
related
SPCC338.13