Term Name: | Leber hereditary optic neuropathy and dystonia |
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Synonyms: | familial dystonia with visual failure and striatal lucencies, LDYT, Leber optic atrophy and dystonia, Leber optic atrophy with dystonia, Marsden syndrome |
Definition: | A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I. |
Ontology: | Human Disease [DOID:0111755] ( DOID:0111755 ) |