Clinical Characteristics

DPM2-CDG is a multisystemic disorder. So far, only 4 individuals with DPM2 deficiency have been described. Clinical presentation includes hypotonia, progressive muscle weakness, absent psychomotor development, intellectual disability, congenital heart defects, intractable seizures, etc. Three of the reported patients died during infancy (7 months- 3 years of age), while there is only one reported DPM2-CDG adult patient, which presented with a milder phenotype.