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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:0000726 | Dementia |
| HP:0000738 | Hallucinations |
| HP:0000819 | Diabetes mellitus |
| HP:0000821 | Hypothyroidism |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001257 | Spasticity |
| HP:0001258 | Spastic paraplegia |
| HP:0001263 | Global developmental delay |
| HP:0001269 | Hemiparesis |
