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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:0001251 | Ataxia |
| HP:0003438 | Absent Achilles reflex |
| HP:0000649 | Abnormality of visual evoked potentials |
| HP:0007002 | Motor axonal neuropathy |
| HP:0001761 | Pes cavus |
| HP:0001271 | Polyneuropathy |
| HP:0000602 | Ophthalmoplegia |
| HP:0000505 | Visual impairment |
| HP:0003676 | Progressive |
| HP:0000650 | Abnormal amplitude of pattern reversal visual evoked potentials |
