has material basis in germline mutation in SLC25A4 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/mitochondrial_dna_depletion_syndrome_12b https://www.malacards.org/card/mitochondrial_dna_depletion_syndrome_12b_autosomal_recessive MTDPS12B mitochondrial DNA depletion syndrome 12 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR MONDO:0014175 GARD:0015961 UMLS:C3809443 NCIT:C129977 DOID:0080335 OMIM:615418 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive MTDPS12 mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) MEDGEN:815773 An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy. mitochondrial DNA depletion syndrome type 12 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR mitochondrial DNA depletion syndrome