Clinical findings from the landmark MEF2C ‐related disorders natural history study

Abstract Introduction: MEF2C‐related disorders are characterized by developmental and cognitive delay, limited language and walking, hypotonia, and seizures. A recent systematic review identified 117 patients with MEF2C‐related disorders across 43 studies. Despite these reports, the disorder is not easily recognized and assessments are hampered by small sample sizes. Our objective was to gather developmental and clinical information on a large number of patients. Methods: We developed a survey based on validated instruments and subject area experts to gather information from