optic atrophy 11 (DOID:0111436)
Alliance: disease page
Synonyms: OPA11
Alt IDs: OMIM:617302
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.