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COG4-CDG

Orpha number ORPHA263501
Synonym(s) CDG syndrome type IIj
CDG-IIj
CDG2J
Carbohydrate deficient glycoprotein syndrome type IIj
Congenital disorder of glycosylation type IIj
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • E77.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.


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Detailed information

Clinical genetics review
  • EN (2014)
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