OBO ID: DOID:0080130 |
Term Name: | mitochondrial DNA depletion syndrome 12a | Search Ontology: | |
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Definition: | A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. (2) | ||
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Ontology: | Human Disease ( DOID:0080130 ) |
OTHER mitochondrial DNA depletion syndrome 12a PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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