|OBO ID: DOID:0080337|
|Term Name:||mitochondrial DNA depletion syndrome 15||Search Ontology:|
|Definition:||A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21. (4)|
|Ontology:||Human Disease (DOID:0080337)|
|is a type of:||
OTHER mitochondrial DNA depletion syndrome 15 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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