optic atrophy 7 (DOID:0111437)
Alliance: disease page
Synonyms: OPA7; optic atrophy 7 with or without auditory neuropathy
Alt IDs: OMIM:612989, MESH:C567833
Definition: An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1.