Barth's syndrome

Barth's syndrome

(bărth)
[P.G. Barth, b. 1944]
A rare X-linked disorder in which affected boys have reduced muscle tone, cardiomyopathy, learning disabilities, a low white blood cell count, and a diminished ability to fight infections.
References in periodicals archive ?
This condition maybe isolated, or maybe associated with a variety of other abnormalities, such as congenital left or right ventricular outflow tract abnormalities (10), Barth's syndrome, Ebstein's anomaly, and bicuspid aortic valves (11).
This mutation is also responsible for Barth's syndrome and endocardial fibroelastosis.