Rare Disease Library

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

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

Encephalopathy due to mitochondrial and peroxisomal fission defect

Encephalopathy due to sulfite oxidase deficiency

FASTKD2-related infantile mitochondrial encephalomyopathy

Fatal infantile cytochrome C oxidase deficiency

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

Isolated ATP synthase deficiency

Isolated mitochondrial respiratory chain complex V deficiency

Leigh syndrome with cardiomyopathy

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

MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect

Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome · Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome

Mitochondrial disease with dilated cardiomyopathy

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Booth-Haworth-Dilling syndrome · Mitochondrial encephalomyopathy-aminoacidopathy syndrome

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

COXPD10 · Combined oxidative phosphorylation defect type 10

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

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome

Severe X-linked mitochondrial encephalomyopathy

Mitochondrial encephalomyopathy due to COXPD6 · Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6

Urocanic aciduria

Encephalopathy due to urocanase deficiency