Metadata | |
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ID | DOID:0111442 |
Name | optic atrophy 9 |
Definition | An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2. https://www.ncbi.nlm.nih.gov/pubmed/25351951 |
Xrefs | |
Synonyms |
OPA9 [EXACT] |
Parent Relationships |
is_a optic atrophy |