Term Name: | optic atrophy 7 |
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Synonyms: | OPA7, optic atrophy 7 with or without auditory neuropathy |
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. |
Ontology: | Human Disease [DOID:0111437] ( DOID:0111437 ) |