Leber hereditary optic neuropathy and dystonia

Term ID

DOID:0111755

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. (5)

References

• OMIM:500001

Ontology

Human Disease   ( DOID:0111755 )