| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 18 individuals
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
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,
Journal of medical genetics - May 2006