Term Name: mitochondrial complex III deficiency nuclear type 6
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 )

Relationships
is a type of: mitochondrial complex III deficiency