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COG6-sEDD-CDG

Previously: Congenital disorder of glycosylation, type IIL

sEDD Gene: COG6 AR

Onset: Birth

Pathway: Glycosylation

Category Paper: sEDD Paper

Key Clinical Clues

Scaling and thickening, erosions, hypohidrosis.

Additional Extracutaneous Features

Growth and developmental retardation, microcephaly, hepatomegaly, recurrent infections.

References

Komlosi K, Gläser S, Kopp J et al. Neonatal presentation of COG6-CDG with prominent skin phenotype. JIMD Rep 2020; 55:51-8.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer

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This is a reference resource for clinicians and researchers. It is not medical advice or a diagnostic tool.

The database is still being verified and entries may be incomplete. Do not rely on it without independent professional judgement.

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