mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive

Rare Disease

MONDO:0014175

Also known as:

MTDPS12Bmitochondrial DNA depletion syndrome 12mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR

An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.

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