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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:0000408 | Progressive sensorineural hearing impairment |
| HP:0000642 | Red-green dyschromatopsia |
| HP:0007641 | Dyschromatopsia |
| HP:0000552 | Tritanomaly |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0000486 | Strabismus |
| HP:0007663 | Reduced visual acuity |
| HP:0000576 | Centrocecal scotoma |
| HP:0001257 | Spasticity |
