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Syndrome with a wide variety of signs and symptoms, hallmark features are intellectual disability and autism spectrum disorder, distinctive facial features and abnormalities of multiple body systems. Present in some cases are hypotonia, feeding difficulties in infancy, gastroesophageal reflux, vomiting, and constipation. Other features include obesity, seizures, and heart abnormalities. Caused by mutations in the ADNP gene, the protein produced from this gene helps control expression of other genes through chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts development or function of several of the body\'s tissues and organs, including the brain. The syndrome results from de novo mutations in the ADNP gene and is not inherited.
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Syndrome with a wide variety of signs and symptoms, hallmark features are intellectual disability and autism spectrum disorder, distinctive facial features and abnormalities of multiple body systems. Present in some cases are hypotonia, feeding difficulties in infancy, gastrooesophageal reflux, vomiting, and constipation. Other features include obesity, seizures, and heart abnormalities. Caused by mutations in the ADNP gene, the protein produced from this gene helps control expression of other genes through chromatin remodelling. Disturbance of this process alters the activity of many genes and disrupts development or function of several of the body\'s tissues and organs, including the brain. The syndrome results from de novo mutations in the ADNP gene and is not inherited.
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