|OBO ID: DOID:0080130|
|Term Name:||mitochondrial DNA depletion syndrome 12a||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0080130)|
|is a type of:||
OTHER mitochondrial DNA depletion syndrome 12a PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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