Congenital disorder of glycosylation type 1E

MONDO:0012123

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, 0 tagged with Congenital disorder of glycosylation type 1E itself.

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↑ Disorder of multiple glycosylation (9) ↑ Congenital disorder of glycosylation type I (7)

Including sub-types (0) Tagged with Congenital disorder of glycosylation type 1E (0)

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