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105 results

  1. ELANE-Related Neutropenia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1533
    ... hypoplasia Chediak-Higashi syndrome Griscelli syndrome (OMIM PS214450 ) Barth syndrome Wiskott-Aldrich syndrome (See WAS -Related Disorders .) Dyskeratosis ...
  2. Cardiomyopathy | Enlarged Heart | MedlinePlus 
    https://medlineplus.gov/cardiomyopathy.html
    ... ventricular cardiomyopathy: MedlinePlus Genetics (National Library of Medicine) Barth syndrome: MedlinePlus Genetics (National Library of Medicine) Danon disease: ...
  3. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Hutterite ... 
    https://www.ncbi.nlm.nih.gov/books/NBK556767
    ... chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2006;43:385- ...
  4. Newborn Screening 
    https://medlineplus.gov/newbornscreening.html
    ... Argininosuccinic aciduria: MedlinePlus Genetics (National Library of Medicine) Barth syndrome: MedlinePlus Genetics (National Library of Medicine) Beta thalassemia: ...
  5. CLPB Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK396257
    ... on MRI). TAFAZZIN (formerly TAZ ) TAZ defect (See Barth syndrome .) XL In affected males: growth delay in infancy, ...
  6. AARS2-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK608563
    ... spinal muscular atrophy Less severe manifestations TAFAZZIN ( TAZ ) Barth syndrome XL Infantile-onset CM, often fatal in childhood ...
  7. Primary Mitochondrial Disorders Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1224
    ... of the mt membrane Coenzyme Q 10 deficiency Barth syndrome Cardiomyopathy & lactic acidosis (mitochondrial phosphate carrier deficiency) mt = ...
  8. G6PC3 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK285321
    ... Neutropenia May be Part of a Multisystem Disorder Barth syndrome Cartilage-hair hypoplasia Charcot-Marie-Tooth disease caused ...
  9. Dystrophinopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1119
    ... forms are less common [ Watkins et al 2011 ]. Barth syndrome , an X-linked disorder caused by mutation of ...
  10. SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria - GeneReviews® ... 
    https://www.ncbi.nlm.nih.gov/books/NBK425223
    ... own window Phenotype 1 Gene Mitochondrial DNA Depletion Syndrome #, Type Reference 2 Hepato-cerebral DGUOK 3, hepatocerebral type POLG ... posted live 20 October 2016 (aeh) Original submission ... depletion syndrome. Hum Mol Genet. 2014; 23 :2459–67. [ PMC ...
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