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Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
rareAn inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.
- Identifiers
- MONDO:0014175 OMIM:615418
- Causal genes
- SLC25A4
- Also known as
- mitochondrial DNA depletion syndrome 12 · mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) · mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR · mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR · mitochondrial DNA depletion syndrome type 12
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