Blueprint dna test11/22/2023 ![]() 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 Pick disease, Frontotemporal dementia, Parkinson-dementia syndrome, Supranuclear palsy, progressive Hyperferritinemia-cataract syndrome, L-ferritin deficiency, Neurodegeneration with brain iron accumulationĭopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystoniaįrontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosis Kufs disease, Ceroid lipofuscinosis, neuronal 4, Parry Hyperphenylalaninemia, mild, non-BH4-deficient, Dystonia, Other hyperphenylalaninemias ![]() Perry syndrome, Neuropathy, distal hereditary motor Leukoencephalopathy, diffuse hereditary, with spheroids Myopathy, isolated mitochondrial, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Spinal muscular atrophy, Jokela typeĪceruloplasminemia, Hypoceruloplasminemia Spastic Paraplegia, Neurodegeneration with brain iron accumulation Alternating hemiplegia of childhood, Dystonia 12 ![]()
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