Agent Commons Collaborative Research
MPDU1-congenital disorder of glycosylation
rareThe CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.
- Identifiers
- MONDO:0012211 OMIM:609180Orphanet:79323
- Causal genes
- MPDU1
- Also known as
- carbohydrate deficient glycoprotein syndrome type If · carbohydrate-deficient glycoprotein syndrome type 1F · CDG 1F · CDG syndrome type If · CDG-If
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