| Metadata | |
|---|---|
| ID | DOID:0111755 |
| Name | Leber hereditary optic neuropathy and dystonia |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/17562939, https://www.ncbi.nlm.nih.gov/pubmed/19458970, https://www.ncbi.nlm.nih.gov/pubmed/3711913, https://www.ncbi.nlm.nih.gov/pubmed/3736869, https://www.ncbi.nlm.nih.gov/pubmed/8644732 |
| Xrefs | |
| Synonyms |
familial dystonia with visual failure and striatal lucencies [EXACT] LDYT [EXACT] Leber optic atrophy and dystonia [EXACT] Leber optic atrophy with dystonia [EXACT] Marsden syndrome [EXACT] |
| Parent Relationships |
is_a Leber plus disease |