Disease association ontology term - MONDO:0013325 - COG5-congenital disorder of glycosylation
Term summary
- ID
- MONDO:0013325
- Name
- COG5-congenital disorder of glycosylation
- Ontology or CV name
- Disease association
- Definition
- COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
