Congenital disorder of glycosylation type 1E
Congenital disorder of glycosylation type 1E
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.
Also known as carbohydrate deficient glycoprotein syndrome type Ie, CDG syndrome type Ie, CDG-Ie, CDG1E, CDGIe, congenital disorder of glycosylation caused by mutation in DPM1, congenital disorder of glycosylation type 1E, congenital disorder of glycosylation type Ie, Dol-P-mannosyltransferase deficiency, DPM1 congenital disorder of glycosylation — per MONDO