Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

85 results
  1. ... Search term GeneReviews Advanced Search Help < Prev Next > Barth Syndrome Carlos Ferreira , MD, Germaine Pierre , MBBS, MRCPCH, MSc, ... movement disorder Epilepsy & optic atrophy 1 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. ... Institute of Neurological Disorders and Stroke) Overview of Barth Syndrome (Barth Syndrome Foundation) Genetics 2-hydroxyglutaric aciduria: MedlinePlus ...
  6. ... 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 ...
  7. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/barth-syndrome</url><title >Barth syndrome</title><other_names ><other_name >3 methylglutaconic aciduria, ...
  8. ... MG, see Myasthenia gravis MGA type 2, see Barth syndrome MGA type II, see Barth syndrome MGA type V, see Dilated cardiomyopathy with ataxia ...
  9. ... 1 Gene(s) MOI Other Clinical Features Comments Barth syndrome TAZ XL Neutropenia Muscle weakness Growth delay Infantile/ ... Delta sarcoglycanopathy (LGMD2F) 601411 TAZ ? XL Childhood presentation Barth syndrome Endocardial fibroelastosis type 2 Familial isolated noncompaction of ...
  10. ... dehydrogenase deficiency 3 methylglutaconic aciduria, type II, see Barth syndrome 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency, see ... carboxylase deficiency 3-methylglutaconic aciduria type 2, see Barth syndrome 3-methylglutaconic aciduria type 3, see Costeff syndrome ...
first · previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · next · last