Term Name: optic atrophy 11
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 )

Relationships
is a type of: autosomal recessive disease optic atrophy