|OBO ID: DOID:0080335|
|Term Name:||mitochondrial DNA depletion syndrome 12b||Search Ontology:|
|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. (4)|
|Ontology:||Human Disease (DOID:0080335)|
|is a type of:||
OTHER mitochondrial DNA depletion syndrome 12b PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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