Localized supravalvular aortic stenosis combined with mental retardation and peculiar facial appearance.
D000293:Adolescent; D000792:Angiography; D001024:Aortic Valve Stenosis / Q000150:complications*; D006328:Cardiac Catheterization; D002648:Child; D003937:Diagnosis, Differential; D005145:Face; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000150:complications; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D008943:Mitral Valve / Q000002:abnormalities