Rare Disease Library

Fatal infantile cytochrome C oxidase deficiency

Fatal infantile COX deficiency · Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

COX deficiency, French-Canadian type · Cytochrome C oxidase deficiency, French-Canadian type

Encephalopathy due to sulfite oxidase deficiency

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

COXPD16 · Combined oxidative phosphorylation defect type 16

Isolated cytochrome C oxidase deficiency

Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency

Leigh syndrome with cardiomyopathy

Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency · Cardiomyopathy with myopathy due to COX deficiency

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Benign COX deficiency · Infantile reversible cytochrome C oxidase deficiency myopathy

OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency

OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency · OBSOLETE: Fatal infantile HCM due to mitochondrial complex I deficiency

TMEM70-related mitochondrial encephalo-cardio-myopathy

Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency