Term Name: COX deficiency, infantile mitochondrial myopathy
Synonyms: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency, fatal infantile COX deficiency, fatal infantile cytochrome C oxidase deficiency, fatal infantile encephalocardiomyopathy
Definition: A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.
Ontology: Human Disease [DOID:0050713]   ( DOID:0050713 )

Relationships
is a type of: cytochrome-c oxidase deficiency disease
has subtype: mitochondrial complex IV deficiency nuclear type 2 mitochondrial complex IV deficiency nuclear type 6 mitochondrial complex IV deficiency nuclear type 9 mitochondrial complex IV deficiency nuclear type 13