/congenital disorder of glycosylation type 1E

congenital disorder of glycosylation type 1E

Rare Disease

MONDO:0012123

Also Known As

CDG syndrome type IeCDG-IeCDG1ECDGIeDPM1 congenital disorder of glycosylationDol-P-mannosyltransferase deficiencycarbohydrate deficient glycoprotein syndrome type Iecongenital disorder of glycosylation caused by mutation in DPM1congenital disorder of glycosylation type 1Econgenital disorder of glycosylation type 1econgenital disorder of glycosylation type IeCDG 1ECDG IeDPM1-CDGDPM1-CDG (CDG-Ie)carbohydrate-deficient glycoprotein syndrome type 1Econgenital disorder of glycosylation, type Ie

Definition

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.