Disease | tic disorder |
Phenotype | C0878544|cardiomyopathy |
Sentences | 1 |
PubMedID- 23152787 | Bths is a rare x-linked genetic disorder associated with cardiomyopathy, cyclic neutropenia, 3-methylglucaconic aciduria and mild hypocholesterolemia and is the only disease in which the specific biochemical defect is a reduction in cl [20], [21]. |
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