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Metadata
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

MIM:616289

Synonyms

OPA9 [EXACT]

Parent Relationships

is_a optic atrophy

is_a autosomal recessive disease

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