Term Name: | Sengers syndrome |
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Synonyms: | mitochondrial DNA depletion syndrome 10, mitochondrial DNA depletion syndrome 10 (cardiomyopathic type) |
Definition: | A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34. |
Ontology: | Human Disease [DOID:0080132] ( DOID:0080132 ) |