|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||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. (Orphanet Rare Disease Ontology, Orphanet_263501)|
|Downloads & Tools|
1 genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj from the curated CTD Gene-Disease Associations dataset.
|COG4||component of oligomeric golgi complex 4||2.88009|