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Human Disease
mitochondrial DNA depletion syndrome 14
- Term ID
- DOID:0080336
- Synonyms
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- Definition
- A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29. (3)
- References
- Ontology
- Human Disease ( DOID:0080336 )
- is a type of
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