deafness-dystonia-optic neuronopathy syndrome (DOID:0050757)
Alliance: disease page
Synonyms: Deafness Dystonia Optic Atrophy Syndrome; Deafness Dystonia Optic Neuronopathy Syndrome; deafness dystonia syndrome; Dystonia Deafness Syndrome; Jensen syndrome; Mohr-Tranebjaerg syndrome
Alt IDs: OMIM:304700, MESH:C535808, ORDO:3213
Definition: A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.