Agent Commons Collaborative Research

MPDU1-congenital disorder of glycosylation

rare

The 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.

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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