Barth syndrome

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Prevalence (%) of clinical parameters based on data from 4 references describing 138 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Cardiomyopathy circulatory 100 % 19648820 2013-07-09
Myopathy skeletal 100 % 19648820 2013-07-09
Short stature skeletal 100 % 19648820 2013-07-09
3-methylglutaconic aciduria circulatory 100 % 19648820 2013-07-09
Fatigue multi 100 % 16847078 2013-07-09
Muscle weakness skeletal 97 % 16847078 2013-07-09
Cardiomyopathy circulatory 95 % 23045169 2014-01-29
Cardiomyopathy circulatory 91 % 23656970 2013-11-14
Heart failure circulatory 91 % 23656970 2013-11-14
Cardiomyopathy circulatory 90 % 16847078 2013-07-09
Neutropenia circulatory 86 % 23656970 2013-11-14
Neutropenia circulatory 75 % 19648820 2013-07-09
Short stature skeletal 58 % 16847078 2013-07-09
Cardiac arrhythmia circulatory 58 % 16847078 2013-07-09
Dilated cardiomyopathy circulatory 54 % 23656970 2013-11-14
Hypertrophic cardiomyopathy circulatory 54 % 23656970 2013-11-14
Developmental delay nervous 50 % 23656970 2013-11-14
Short stature skeletal 50 % 23656970 2013-11-14
Weight loss multi 50 % 23656970 2013-11-14
Weight loss multi 44 % 16847078 2013-07-09
Ventricular arrythmia circulatory 44 % 16847078 2013-07-09
Failure to thrive multi 25 % 19648820 2013-07-09
Hypercholesterolemia circulatory 24 % 16847078 2013-07-09
Leukopenia circulatory 20 % 16847078 2013-07-09
Increased blood CK circulatory 15 % 16847078 2013-07-09
Decreased LDL circulatory 15 % 16847078 2013-07-09



List of references:


Dysmorphology of Barth syndrome.
Rob Hastings, Colin Steward, Beverly Tsai-Goodman, Ruth Newbury-Ecob,



Clinical dysmorphology - Oct 2009



Cardiac and clinical phenotype in Barth syndrome.
Carolyn T Spencer, Randall M Bryant, Jane Day, Iris L Gonzalez, Steven D Colan, W Reid Thompson, Julie Berthy, Sharon P Redfearn, Barry J Byrne,



Pediatrics - Aug 2006



The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study.
Amy E Roberts, Connie Nixon, Colin G Steward, Kimberly Gauvreau, Melissa Maisenbacher, Matthew Fletcher, Judith Geva, Barry J Byrne, Carolyn T Spencer,



American journal of medical genetics. Part A - Nov 2012



Natural history of Barth syndrome: a national cohort study of 22 patients.
Charlotte Rigaud, Anne-Sophie Lebre, Renaud Touraine, Blandine Beaupain, Chris Ottolenghi, Allel Chabli, Helene Ansquer, Hulya Ozsahin, Sylvie Di Filippo, Pascale De Lonlay, Betina Borm, Francois Rivier, Marie-Catherine Vaillant, Michèle Mathieu-Dramard, Alice Goldenberg, Géraldine Viot, Philippe Charron, Marlene Rio, Damien Bonnet, Jean Donadieu,



Orphanet journal of rare diseases - May 2013