DISEASES

Disease-gene associations mined from literature

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