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Barth syndrome

From SNPedia

Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type 2, is an X-linked genetic disorder. The disorder, which affects multiple body systems, has so far been found exclusively in males. It is named after Dutch pediatric neurologist Peter Barth.Wikipedia

Rare mutations in the TAZ gene on the X chromosome may lead to Barth syndrome.