Term Name: | optic atrophy 6 |
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Synonyms: | OPA6 |
Definition: | An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22. |
Ontology: | Human Disease [DOID:0111435] ( DOID:0111435 ) |