Term Name: | optic atrophy 5 |
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Synonyms: | OPA5 |
Definition: | An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. |
Ontology: | Human Disease [DOID:0111438] ( DOID:0111438 ) |