| Metadata | |
|---|---|
| ID | DOID:0111340 |
| Name | dominant optic atrophy plus syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/12566046, https://www.ncbi.nlm.nih.gov/pubmed/20157015 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715374003 |
| Subsets |
DO_rare_slim |
| Synonyms |
DOA+ [EXACT] optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy [EXACT] |
| Parent Relationships |
is_a syndrome |