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381 results
  1. ... Search term GeneReviews Advanced Search Help < Prev Next > Barth Syndrome Carlos Ferreira , MD, Germaine Pierre , MBBS, MRCPCH, MSc, ... Epilepsy & optic atrophy 1 TAFAZZIN (formerly TAZ ) XL Barth syndrome (topic of this GeneReview ) In males, cardiomyopathy (left ...
  2. ... syndrome. Learn more about the gene associated with Barth syndrome TAFAZZIN Inheritance This condition is inherited in an ...
  3. ... within cells. Health Conditions Related to Genetic Changes Barth syndrome More than 130 mutations in the TAFAZZIN gene have been found to cause Barth syndrome. This rare condition occurs almost exclusively in males ...
  4. ... published></health-condition-summary><health-condition-summary ><name >Barth syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  5. ... Alagille Syndrome Aortic Coarctation Arrhythmogenic Right Ventricular Dysplasia Barth Syndrome Cor Triatriatum Coronary Vessel Anomalies Bland White Garland ...
  6. ... Arrhythmogenic Right Ventricular Dysplasia C14.240.400.172 Barth Syndrome C14.240.400.200 Cor Triatriatum C14.240. ... Arrhythmogenic Right Ventricular Dysplasia C14.280.400.172 Barth Syndrome C14.280.400.200 Cor Triatriatum TREE_NUMBER ...
  7. ... Arrhythmogenic Right Ventricular Dysplasia C14.240.400.172...........................................Barth Syndrome C14.240.400.200...........................................Cor Triatriatum C14.240. ...
  8. ... Institute of Neurological Disorders and Stroke) Overview of Barth Syndrome (Barth Syndrome Foundation) Genetics 2-hydroxyglutaric aciduria: MedlinePlus ...
  9. ... epilepsy & optic atrophy) TAFAZZIN ( TAZ ) XL TAFAZZIN defect ( Barth syndrome ) Cardiomyopathy; 5 skeletal myopathy; DD; growth restriction; neutropenia ... Wanders RJ. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A. 2004; ...
  10. ... Bare lymphocyte syndrome type II Bart-Pumphrey syndrome Barth syndrome Bartholin-Patau syndrome, see Trisomy 13 Bartter disease, ... disease BTD deficiency, see Biotinidase deficiency BTHS, see Barth syndrome Buckley syndrome, see Autosomal dominant hyper-IgE syndrome ...
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