Term Name: | deafness-dystonia-optic neuronopathy syndrome |
---|---|
Synonyms: | Deafness Dystonia Optic Atrophy Syndrome, Deafness Dystonia Optic Neuronopathy Syndrome, deafness dystonia syndrome, Dystonia Deafness Syndrome, Jensen syndrome, Mohr-Tranebjaerg syndrome |
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. |
Ontology: | Human Disease [DOID:0050757] ( DOID:0050757 ) |