OBO ID: DOID:0050757 |
Term Name: | deafness-dystonia-optic neuronopathy syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0050757 ) |
OTHER deafness-dystonia-optic neuronopathy syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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