OBO ID: DOID:0050757
Term Name: deafness-dystonia-optic neuronopathy syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:0050757 )
Relationships
is a type of:
OTHER deafness-dystonia-optic neuronopathy syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TIMM8A Mohr-Tranebjaerg syndrome 304700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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