Human genes for optic atrophy 11
Optic atrophy 11 [DOID:0111436]
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 YME1L1 on chromosome 10p12.1.
Synonyms: optic atrophy 11, DOID:0111436, OPA11