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Metadata
ID	DOID:0080335
Name	mitochondrial DNA depletion syndrome 12b
Definition	A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. https://ghr.nlm.nih.gov/gene/SLC25A4#conditions, https://www.ncbi.nlm.nih.gov/pubmed/22187496, https://www.ncbi.nlm.nih.gov/pubmed/27693233
Xrefs	GARD:1142 MIM:615418 NCI:C129977 ORDO:1369
Subsets	DO_rare_slim NCIthesaurus
Parent Relationships	is_a mitochondrial DNA depletion syndrome is_a autosomal recessive disease