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mitochondrial complex III deficiency nuclear type 6
Summary
- 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.
- Super Class
- mitochondrial complex III deficiency
External Links
- Disease Ontology
- DOID:0080115
- Mondo Disease Ontology
- OMIM
