" /> Barth Syndrome - CISMeF





Preferred Label : Barth Syndrome;

NCIt synonyms : 3-Methylglutaconic Aciduria Type 2;

NCIt definition : A rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria.;

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31/07/2025


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