Human genes for optic atrophy 9
Optic atrophy 9 [DOID:0111442]
An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in ACO2 on chromosome 22q13.2.
Synonyms: optic atrophy 9, DOID:0111442, OPA9