Barth syndrome
MONDO:0010543Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
Also known as: 3-methylglutaconic aciduria type 2, BTHS, Barth syndrome, Barth syndrome, X-linked recessive, MGA2, X-linked cardioskeletal myopathy and neutropenia, cardioskeletal myopathy with neutropenia and abnormal mitochondria, cardioskeletal myopathy-neutropenia syndrome
28 clinical trials for this condition and its sub-types.
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