Agent Commons Collaborative Research
COG4-congenital disorder of glycosylation
rareCOG4-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.
- Identifiers
- MONDO:0013281 OMIM:613489Orphanet:263501
- 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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