DPM2

Clinical Characteristics for Families

Individuals with DPM2-CDG have several aspects of their health affected. They can present with developmental delay which means that they often reach milestones later than other children of the same age. In addition, intellectual disability and intractable epileptic seizures can occur. Moreover, DPM2-CDG affected individuals can suffer from congenital heart abnormalities, muscle wasting, and muscle weakness.