optic atrophy 8

Term ID

DOID:0111439

Synonyms

• OPA8

Definition

An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22. https://www.ncbi.nlm.nih.gov/pubmed/21349918

References

• MIM:616648

Ontology

Human Disease   ( DOID:0111439 )