List of variants studied for Epicanthus; Ear malformation; Global developmental delay; Autistic behavior; Abnormal facial shape; Absent speech; Joint laxity; Achalasia; Abnormal muscle tone; Hypoplasia of the frontal lobes; Abnormality of the gastrointestinal tract; EEG with abnormally slow frequencies; Prominent forehead; Delayed myelination by
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
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