Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency +
Hyperglycinemia, Lactic Acidosis, and Seizures
MELAS syndrome +
MERRF Syndrome +
mitochondrial complex V (ATP synthase) deficiency nuclear type 2
mitochondrial DNA depletion syndrome 11
mitochondrial DNA depletion syndrome 12a
mitochondrial DNA depletion syndrome 12b
mitochondrial DNA depletion syndrome 13
mitochondrial DNA depletion syndrome 14
A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29. (DO)
mitochondrial DNA depletion syndrome 15
Mitochondrial DNA Depletion Syndrome 16
Mitochondrial DNA Depletion Syndrome 17
Mitochondrial DNA Depletion Syndrome 18
Mitochondrial DNA Depletion Syndrome 19
mitochondrial DNA depletion syndrome 2
mitochondrial DNA depletion syndrome 3
mitochondrial DNA depletion syndrome 5
mitochondrial DNA depletion syndrome 6
mitochondrial DNA depletion syndrome 8A
mitochondrial DNA depletion syndrome 8b
mitochondrial DNA depletion syndrome 9
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +
Mitochondrial DNA Depletion Syndrome, MNGIE Type +
Mitochondrial DNA Depletion Syndrome, Myopathic Form +
mitochondrial encephalomyopathy +
Mitochondrial Encephalopathy
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport
Mitochondrial Myopathy with Diabetes
Mitochondrial Myopathy with Lactic Acidosis
Mitochondrial Myopathy, and Ataxia
Mitochondrial Myopathy, Infantile, Transient
Mitochondrial Myopathy, Lethal Infantile
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay