Human genes for optic atrophy 7
Optic atrophy 7 [DOID:0111437]
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 TMEM126A on chromosome 11q14.1.
Synonyms: optic atrophy 7, DOID:0111437, OPA7, optic atrophy 7 with or without auditory neuropathy