Term Name: optic atrophy 5
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 )

Relationships
is a type of: autosomal dominant disease optic atrophy