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ID | DOID:0080337 |
Name | mitochondrial DNA depletion syndrome 15 |
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. https://ghr.nlm.nih.gov/gene/TFAM#conditions, https://www.ncbi.nlm.nih.gov/pubmed/27448789, https://www.ncbi.nlm.nih.gov/pubmed/28215579 |
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