Rare Disease Library

DNA2-related mitochondrial DNA deletion syndrome

Mitochondrial DNA deletion syndrome with limb-girdle weakness · mtDNA deletion syndrome with limb-girdle weakness

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Adult-onset CPEO with mitochondrial myopathy

Mitochondrial DNA depletion syndrome

mtDNA depletion syndrome

Mitochondrial DNA depletion syndrome, encephalomyopathic form

mtDNA depletion syndrome, encephalomyopathic form

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

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

Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy

Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Mitochondrial DNA depletion syndrome, hepatocerebral form

mtDNA depletion syndrome, hepatocerebral form · Deoxyguanosine kinase deficiency

Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

mtDNA depletion syndrome, hepatocerebrorenal form

Mitochondrial DNA depletion syndrome, myopathic form

mtDNA depletion syndrome, myopathic form

Mitochondrial DNA maintenance syndrome

mtDNA maintenance syndrome

Mitochondrial DNA-related mitochondrial myopathy

mtDNA-related mitochondrial myopathy · Maternally-inherited mitochondrial myopathy

Mitochondrial myopathy

Mitochondrial myopathy-lactic acidosis-deafness syndrome

Mitochondrial myopathy-lactic acidosis-hearing loss syndrome

Multiple mitochondrial DNA deletion syndrome

Multiple mtDNA deletion syndrome

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

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

Proximal myopathy with focal depletion of mitochondria

Pure mitochondrial myopathy

Recessive mitochondrial ataxia syndrome

MIRAS