DPM1-CDG

What is DPM1-CDG?

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

Other condition names

• CDG syndrome type Ie
• CDG-Ie
• CDG1E
• Carbohydrate deficient glycoprotein syndrome type Ie
• Congenital disorder of glycosylation type 1e
• Congenital disorder of glycosylation type Ie
• Dol-P-mannosyltransferase deficiency

Inheritance type

Autosomal recessive

Prevalence

• Worldwide: <1 in 1,000 000

Age of Onset

• Infancy
• Neonatal