Signs & Symptoms

Individuals with MAPK8IP3-related disorder have a spectrum of neurodevelopmental disabilities. All affected individuals experience some level of global developmental delay including problems with muscle tone (both hypertonia and hypotonia have been reported) and walking, impaired intellectual development, and poor or absent speech. Some individuals have brain abnormalities visible on MRI including thin corpus callosum, cerebral atrophy, perisylvian polymicrogyria and delayed myelination. EEG abnormalities, including slow waves with spikes, have been reported. Other reported features include: