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3-methylglutaconic aciduria type 5
DCMA

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Prevalence of clinical parameters (%)







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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
Failure to thrive multi 100 % 16055927 2014-01-15
Short stature skeletal 100 % 16055927 2014-01-15
3-methylglutaconic aciduria urinary 100 % 16055927 2014-01-15
3-methylglutaric aciduria urinary 100 % 16055927 2014-01-15
Testicular dysgenesis reproductive 82 % 16055927 2014-01-15
Dilated cardiomyopathy circulatory 70 % 16055927 2014-01-15
Anemia circulatory 66 % 16055927 2014-01-15
Ataxia nervous 56 % 16055927 2014-01-15
Mental retardation nervous 56 % 16055927 2014-01-15
Developmental delay nervous 56 % 16055927 2014-01-15
Increased blood transaminase digestive 44 % 16055927 2014-01-15
Long QT circulatory 33 % 16055927 2014-01-15
Steatosis digestive 28 % 16055927 2014-01-15
Optic atrophy nervous 22 % 16055927 2014-01-15
Seizures nervous 11 % 16055927 2014-01-15



List of references:


Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
K M Davey, J S Parboosingh, D R McLeod, A Chan, R Casey, P Ferreira, F F Snyder, P J Bridge, F P Bernier,

A novel autosomal recessive condition, dilated cardiomyopathy with ataxia (DCMA) syndrome, has been identified in the Canadian Dariusleut Hutterite population, characterised by early onset dilated cardiomyopathy with conduction defects, non-progressive cerebellar ataxia, testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria.

Journal of medical genetics - May 2006


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