Term Name: | mitochondrial DNA depletion syndrome 15 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080337] ( DOID:0080337 ) |