Phenotypes associated with the disease optic atrophy 9 (OMIM:616289):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/2. (PMID:25351951)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/2. (PMID:25351951)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 2/2. (PMID:25351951)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:616289)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: PCS. Frequency: 2/2. (PMID:25351951)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: PCS. Frequency: 2/2. Onset: Young adult onset (HP:0011462). (PMID:25351951)
- Red-green dyschromatopsia (HP:0000642): Difficulty with discriminating red and green hues. Evidence: PCS. Frequency: 2/2. Onset: Young adult onset (HP:0011462). (PMID:25351951)
- Paracentral scotoma (HP:0030528). Evidence: PCS. Frequency: 2/2. Onset: Young adult onset (HP:0011462). (PMID:25351951)
- Optic disc pallor (HP:0000543): A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Evidence: PCS. Frequency: 2/2. Onset: Childhood onset (HP:0011463). (PMID:25351951)