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optic atrophy 12
Summary
- 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.
- Super Class
- autosomal dominant disease optic atrophy
External Links
- Disease Ontology
- DOID:0080840
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000135 | Hypogonadism |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
| HP:0000518 | Cataract |
| HP:0000551 | Color vision defect |
| HP:0000602 | Ophthalmoplegia |
| HP:0000603 | Central scotoma |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
