Barth syndrome

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Barth syndrome

(barth), [MIM*302060]
an X-linked syndrome characterized by poor growth, neutropenia, cardiomyopathy, and excess excretion of 3-methylglutaconic acid in the urine; some patients also show skeletal muscle weakness.

Barth syndrome

A rarely reported but underdiagnosed X-linked disorder characterised by cardiomyopathy, neutropenia, muscle hypoplasia, weakness, exercise intolerance, growth delay, cardiolipin defects and 3-methylglutaconic aciduria.

Barth syn·drome

(bahrt sin'drōm)
An X-linked syndrome characterized by poor growth, neutropenia, cardiomyopathy, and excess excretion of 3-methylglutaconic acid in the urine; some patients also show skeletal muscle weakness.