Visualize Submit Comment

Metadata
ID	DOID:0111438
Name	optic atrophy 5
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. https://www.ncbi.nlm.nih.gov/pubmed/28969390
Xrefs	MESH:C537126 MIM:610708
Synonyms	OPA5 [EXACT]
Parent Relationships	is_a optic atrophy is_a autosomal dominant disease