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105 results
  1. Barth Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK247162
    ... ClinVar TAFAZZIN Xq28 Tafazzin TAZbase: Mutation registry for Barth syndrome Human Tafazzin Gene Variants Database TAZ database TAFAZZIN TAFAZZIN Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. OPA1 gene 
    https://medlineplus.gov/genetics/gene/opa1
    ... Gueguen N, Desquiret-Dumas V, N'Guyen S, Barth M, Zanlonghi X, Rio M, Desguerre I, Barnerias C, Momtchilova M, Rodriguez D, Slama A, Lenaers G, Procaccio V, Amati-Bonneau P, Reynier P. Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. Brain. ...
  3. TSEN54 Pontocerebellar Hypoplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK9673
    ... posted live 1 May 2009 (fb) Original submission ... J. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly and extrapyramidal ...
  4. Costeff Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1473
    ... in an individual of non-Iraqi Jewish origin ... [ PubMed : 11668429 ] Barth PG, Valianpour F, Bowen VM, Lam J, Duran ...
  5. Mitochondrial Diseases 
    https://medlineplus.gov/mitochondrialdiseases.html
    ... Disease? (United Mitochondrial Disease Foundation) Specifics Overview of Barth Syndrome (Barth Syndrome Foundation) Genetics 2-hydroxyglutaric aciduria: MedlinePlus ...
  6. xmlmplus_topics_2025-04-05.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-04-05.xml
    ... site><site ><information-category >Specifics</information-category><organization >Barth Syndrome Foundation</organization></site><site ><information-category >Genetics</information- ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/barth-syndrome</url><title >Barth syndrome</title><other_names ><other_name >3 methylglutaconic aciduria, ...
  8. Danon Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK554742
    ... Gene Locus Links Similar articles in PubMed Review Barth Syndrome. [GeneReviews(®). 1993] Review Barth Syndrome. Ferreira C, Pierre G, Thompson R, Vernon H. ...
  9. Dilated Cardiomyopathy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1309
    ... 1 Gene(s) MOI Other Clinical Features Comments Barth syndrome TAFAZZIN ( TAZ ) XL Neutropenia Muscle weakness Growth delay ... a specific syndrome associated with DCM (e.g., Barth syndrome or Duchenne muscular dystrophy ), counseling for that condition ...
  10. SERAC1 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK195853
    ... found in MEGD[H]EL syndrome) TAFAZZIN ( TAZ ) Barth syndrome XL Present * In males, cardiomyopathy (left ventricular noncompaction), ... click here . National Library of Medicine Genetics Home Reference MEGDEL syndrome Metabolic Support UK United Kingdom Phone: 0845 241 ...
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