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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:0001272 | Cerebellar atrophy |
| HP:0001284 | Areflexia |
| HP:0001288 | Gait disturbance |
| HP:0001761 | Pes cavus |
| HP:0001972 | Macrocytic anemia |
| HP:0002015 | Dysphagia |
| HP:0002076 | Migraine |
| HP:0002135 | Basal ganglia calcification |
| HP:0002518 | Abnormal periventricular white matter morphology |
| HP:0003198 | Myopathy |
