Congenital disorder of glycosylation type 1E

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

Also known as: CDG syndrome type Ie, CDG-Ie, CDG1E, CDGIe, DPM1 congenital disorder of glycosylation, Dol-P-mannosyltransferase deficiency, carbohydrate deficient glycoprotein syndrome type Ie, congenital disorder of glycosylation caused by mutation in DPM1

0 clinical trials for this condition and its sub-types.