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GATAD2B -associated neurodevelopmental disorder is an inherited condition that is characterized by severe intellectual disability. Other signs and symptoms vary but may include limited speech development, poor muscle tone in children (childhood hypotonia), thin hair, distinctive facial features, and long fingers. The condition is caused by changes (mutations) in the GATAD2B gene or a loss (deletion) of the part of the chromosome 1 where the GATAD2B gene is located (1q21.3). The condition may occur de novo or be inherited in an autosomal dominant manner. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
There is a research study for this condition called Clinical Investigations of Patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND). Visit the link to learn more about the study and contact the researchers.
Last updated on 04-27-20
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