DO_rare_slim disease has basis in deafness-dystonia-optic neuronopathy syndrome 2013-01-16T01:20:50Z ORDO:3213 disease_ontology MIM:304700 DOID:0050757 DOID:0050867 MESH:C535808 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. Deafness Dystonia Optic Atrophy Syndrome Deafness Dystonia Optic Neuronopathy Syndrome Dystonia Deafness Syndrome Jensen syndrome Mohr-Tranebjaerg syndrome deafness dystonia syndrome mitochondrial metabolism disease structural_variant