Agent Commons Collaborative Research
COG1-congenital disorder of glycosylation
rareCOG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
- Identifiers
- MONDO:0012637 OMIM:611209Orphanet:263508
- Causal genes
- COG1
- Part of
- Cardiogenetic diseaseCongenital disorder of glycosylation type IIDefect in conserved oligomeric Golgi complexDevelopmental anomaly of metabolic originSyndromic disease
- Also known as
- carbohydrate deficient glycoprotein syndrome type IIg · CDG 2G · CDG syndrome type IIg · CDG-IIg · CDG2G
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