Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

Autosomal recessive

Infancy, Neonatal

Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Autosomal recessive

Infancy, Neonatal

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Autosomal recessive

Childhood, Infancy, Neonatal

Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

Autosomal recessive

Infancy, Neonatal

Mitochondrial DNA depletion syndrome, myopathic form

Autosomal recessive

Infancy, Neonatal

Mitochondrial DNA-associated Leigh syndrome

Mitochondrial inheritance

Childhood, Infancy

Mitochondrial DNA-related dystonia

Mitochondrial inheritance

Childhood

Mitochondrial DNA-related progressive external ophthalmoplegia

Mitochondrial inheritance, Not applicable

Adolescent, Adult

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Unknown

Infancy, Neonatal

Mitochondrial membrane protein-associated neurodegeneration

Autosomal recessive

Adolescent, Adult, Childhood

Mitochondrial myopathy and sideroblastic anemia

Autosomal recessive

Adolescent, Childhood, Infancy

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Mitochondrial inheritance

Infancy, Neonatal

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Autosomal dominant

Adult, Infancy

Mitochondrial myopathy-lactic acidosis-deafness syndrome

No data available

Childhood

Mitochondrial neurogastrointestinal encephalomyopathy

Autosomal recessive

Adolescent, Adult, Childhood

Mitochondrial pyruvate carrier deficiency

Autosomal recessive

Neonatal

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Autosomal recessive

Childhood, Infancy, Neonatal

Mitochondrial trifunctional protein deficiency

Autosomal recessive

Infancy, Neonatal

Mixed connective tissue disease

Multigenic/multifactorial

Adolescent, Adult, Childhood

Mixed germ cell tumor

Not applicable

Adolescent, Adult, Childhood

Mixed phenotype acute leukemia

Adolescent, Adult, Childhood

Mixed sclerosing bone dystrophy with extra-skeletal manifestations

Neonatal

Mixed-type autoimmune hemolytic anemia

Multigenic/multifactorial

All ages

Miyoshi myopathy

Autosomal recessive

Adult