DISEASES

Disease-gene associations mined from literature

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,  DOID:0050757,  deafnessdystoniaoptic neuronopathy syndrome,  deafness-dystonia-optic neuronopathy disease,  deafness-dystonia-optic neuronopathy disorder ...