Gatad2b-Associated Neurodevelopmental Disorder

GATAD2B-associated neurodevelopmental disorder (GAND) affects the way the brain develops. Symptoms of GAND include moderate to severe intellectual disability, poor speech development, and large head size. Other signs and symptoms may include low muscle tone in children (childhood hypotonia), feeding problems, heart problems and shared facial features. Because so few cases have been described in the medical literature, it is difficult to know how this condition changes over time. GAND is caused by a GATAD2B gene that is absent or not working correctly. It usually occurs in a family for the first time due to a new genetic change (de novo) and may be inherited in an autosomal dominant pattern. GAND is diagnosed based on the symptoms, a clinical exam and genetic testing. Treatment is focused on managing the symptoms.