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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:0003202 | Skeletal muscle atrophy |
| HP:0003326 | Myalgia |
| HP:0003691 | Scapular winging |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem |
| HP:0007371 | Corpus callosum atrophy |
| HP:0009921 | Duane anomaly |
| HP:0011968 | Feeding difficulties |
| HP:0012378 | Fatigue |
| HP:0012511 | Temporal optic disc pallor |
