Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesĭiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetes Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiency Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency Leber optic atrophy and dystonia, Mitochondrial complex I deficiency Leber hereditary optic neuropathy, Mitochondrial complex I deficiency Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiency, Deafness, mitochondrialĬytochrome c oxidase deficiency, Leber hereditary optic neuropathy Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialĬardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophic Paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy (PNKD3), Cerebellar atrophy, developmental delay, and seizures (CADEDS)ĭystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG)Ĭombined oxidative phosphorylation deficiency 31 Hyperphenylalaninemia, mild, non-BH4-deficient, Dystonia, Other hyperphenylalaninemiasĭopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia Dyskinesia, familial, with facial myokymiaĪlternating hemiplegia of childhood, Dystonia 12ĭeafness, dystonia, and cerebral hypomyelinationĭystonia 23, Early infantile epileptic encephalopathy
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