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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 17-07-2018 |
Symbol | CMDA |
Location | 3q26.33 |
Name | cardiomyopathy, dilated with ataxia syndrome |
Other name(s) |
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Corresponding gene | DNAJC19 |
Other symbol(s) | DCMA, MGCA5 |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | neurology |
cardiovascular | |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| abnormal splicing
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| abnormal protein/loss of function
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Remark(s) |