label: mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
label_lc: mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive
description: An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.