Mitochondrial DNA depletion syndrome 4a is a severe cerebrohepatopathy that primarily affects the brain and liver. It is caused by pathogenic variants...

Mitochondrial DNA depletion syndrome 4b is a multisystem disorder that primarily affects muscle, neurological, and gastrointestinal function. The cond...

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a very rare condition that primarily affects the liver and the nervous system. It is c...

Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), also known as infantile-onset spinocerebellar ataxia (IOSCA), is a hereditary neurologic...

Mitochondrial DNA depletion syndrome 8a is a condition caused by mutations in the RRM2B gene that affect the maintenance of mitochondrial DNA and ener...

Mitochondrial DNA depletion syndrome 9 is a rare neurometabolic condition that typically presents in infancy with severe lactic acidosis, methylmaloni...

Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of disorders affecting the maintenance of mitochondrial DNA and is primarily...

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is a multisystem condition primarily affecting energy-depend...

Mitochondrial DNA depletion syndrome, hepatocerebral form is a disorder that predominantly affects the liver and brain, leading to multi-system compli...

Mitochondrial DNA depletion syndrome, hepatocerebrorenal form is an extremely rare condition that affects multiple organ systems, primarily the liver,...

Mitochondrial DNA depletion syndrome, myopathic form is a rare inherited disorder that primarily affects skeletal muscle function. It arises from path...

Mitochondrial DNA maintenance syndrome is an inherited metabolic disorder that arises from disruptions in the maintenance of the mitochondrial genome....

Mitochondrial encephalomyopathy is a heterogeneous group of disorders characterized by impaired mitochondrial metabolism that affects both muscle and...

Mitochondrial membrane transport disorder is a condition that appears to affect the function of the mitochondria, the energy-producing compartments in...

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome is a multi-system condition that affects muscles, the cerebellum, and other o...

Mitochondrial myopathy with a defect in mitochondrial-protein transport is an inherited condition that primarily affects muscle function. Although det...

Mitochondrial myopathy with diabetes is a condition that primarily affects skeletal muscle function along with metabolic regulation, leading to the on...