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COG5-congenital disorder of glycosylation
rareCOG5-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.
- Identifiers
- MONDO:0013325 OMIM:613612Orphanet:263487
- Causal genes
- COG5
- Part of
- Congenital disorder of glycosylation type IIDefect in conserved oligomeric Golgi complexSyndromic disease
- Also known as
- carbohydrate deficient glycoprotein syndrome type III · CDG syndrome type 3 · CDG syndrome type III · CDG-III · CDG2I
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