The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.
Other condition names
CDG syndrome type If
CDG-If
CDG1F
Carbohydrate deficient glycoprotein syndrome type If