congenital disorder of glycosylation, type iij Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.omim.org/entry/613489
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Genes

1 genes associated with the congenital disorder of glycosylation, type iij phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
COG4 component of oligomeric golgi complex 4