Term Name: | optic atrophy 12 |
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Synonyms: | |
Definition: | An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. |
Ontology: | Human Disease [DOID:0080840] ( DOID:0080840 ) |