Term Name: | optic atrophy 1 |
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Synonyms: | OPA1 |
Definition: | An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. |
Ontology: | Human Disease [DOID:0111441] ( DOID:0111441 ) |