Term Name: | dominant optic atrophy plus syndrome |
---|---|
Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111340] ( DOID:0111340 ) |