optic atrophy 12

Term ID

DOID:0080840

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. https://pubmed.ncbi.nlm.nih.gov/32219868/

References

• OMIM:618977

Ontology

Human Disease   ( DOID:0080840 )