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7266589 
Journal Article 
Review 
GeneReviews® 
Adam,; Ardinger,; Pagon,; Wallace,; Bean,; Stephens,; Amemiya,; Veerapandiyan,; Statland,; Tawil,; , 
1993 
University of Washington, Seattle 
Seattle (WA) 
GeneReviews® 
English 
20301441 
Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described. 
Adam, MP; Ardinger, HH; Pagon, RA; Wallace, SE; Bean, LJH; Mirzaa, G; Amemiya, A