IRF2BPL

Clinical Characteristics

Children with NEDAMSS due to a genetic change in the IRF2BPL gene typically meet all of their early milestones like walking and talking. However, between the ages of 2 and 10 years, the children start to lose these abilities as well as the use of hands. These children also can develop abnormal and involuntary movements, seizures, trouble swallowing, and difficulty controlling their eyes.