DPM2-CDG

Other Names: Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG syndrome type Iu; CDG-Iu; CDG1U; CMD with intellectual disability and severe epilepsy; Carbohydrate deficient glycoprotein syndrome type Iu; Congenital disorder of glycosylation type Iu; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; Congenital disorder of glycosylation type 1u

Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.

NIH genetic and rare disease info

• NIH info on DPM2-CDG

DPM2-CDG is a rare disease.

DPM2-CDG Resources
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