Human genes for optic atrophy 5
Optic atrophy 5 [DOID:0111438]
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.
Synonyms: optic atrophy 5, DOID:0111438, OPA5