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 )

Relationships
is a type of: mitochondrial metabolism disease