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Human Disease
Leber hereditary optic neuropathy and dystonia
- Term ID
- DOID:0111755
- Synonyms
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- 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. (5)
- References
- Ontology
- Human Disease ( DOID:0111755 )
- is a type of
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