Term Name: | optic atrophy 11 |
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Synonyms: | OPA11 |
Definition: | An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1. |
Ontology: | Human Disease [DOID:0111436] ( DOID:0111436 ) |