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dominant optic atrophy plus syndrome
Summary
- Synonym
-
- DOA+
- optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- Definition
- A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111340
- Mondo Disease Ontology
- UMLS
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0001133 | Constriction of peripheral visual field |
| HP:0012511 | Temporal optic disc pallor |
| HP:0000648 | Optic atrophy |
| HP:0004463 | Absent brainstem auditory responses |
| HP:0001638 | Cardiomyopathy |
| HP:0000529 | Progressive visual loss |
| HP:0003444 | EMG: chronic denervation signs |
| HP:0001258 | Spastic paraplegia |
| HP:0009830 | Peripheral neuropathy |
