Term Name: | mitochondrial complex III deficiency nuclear type 6 |
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Synonyms: | |
Definition: | A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24. |
Ontology: | Human Disease [DOID:0080115] ( DOID:0080115 ) |