Human genes for deafness-dystonia-optic neuronopathy syndrome
Deafness-dystonia-optic neuronopathy syndrome [DOID:0050757]
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.
Synonyms: deafness-dystonia-optic neuronopathy syndrome, deafnessdystoniaoptic neuronopathy syndrome, deafness-dystonia-optic neuronopathy disease, deafness-dystonia-optic neuronopathy disorder, deafness-dystonia-optic neuronopathy syndromes ...