dominant optic atrophy plus syndrome (DOID:0111340)
Alliance: disease page
Synonyms: DOA+; optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Alt IDs: OMIM:125250, UMLS_CUI:C3276549
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.