congenital disorder of glycosylation, type iii Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia. (Orphanet Rare Disease Ontology, Orphanet_263487)
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1 genes associated with the congenital disorder of glycosylation, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
COG5 component of oligomeric golgi complex 5