Rare Disease Library

Isolated complex I deficiency

Isolated NADH-coenzyme Q reductase deficiency · Isolated NADH-ubiquinone reductase deficiency

Isolated ATP synthase deficiency

Isolated mitochondrial respiratory chain complex V deficiency

Isolated complex III deficiency

Isolated CoQ-cytochrome C reductase deficiency · Isolated coenzyme Q-cytochrome C reductase deficiency

Isolated cytochrome C oxidase deficiency

Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency

Isolated oxidative phosphorylation complex disorder

Isolated respiratory chain complex disorder

Isolated succinate-CoQ reductase deficiency

Isolated mitochondrial respiratory chain complex II deficiency · Isolated succinate-coenzyme Q reductase deficiency

Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Benign COX deficiency · Infantile reversible cytochrome C oxidase deficiency myopathy

Mitochondrial pyruvate carrier deficiency

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

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

Pontocerebellar hypoplasia type 6

Fatal infantile encephalopathy with mitochondrial respiratory chain defects · PCH6

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