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Clinical Characteristics

Helsmoortel-Van der Aa syndrome is a rare disorder characterized by autism, delayed motor and speech development, and mild to severe intellectual disability. Other features are low muscle tone (hypotonia) and feeding problems in early childhood, visual problems, epilepsy, and behavioral problems (attention deficit/hyperactivity disorder, compulsive behavior, anxiety). Some children are born with structural brain, heart or urogenital tract malformations.