deafness-dystonia-optic neuronopathy syndrome

Term ID

DOID:0050757

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. (4)

References

• MESH:C535808
• OMIM:304700
• ORDO:3213

Ontology

Human Disease   ( DOID:0050757 )