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  • 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.
database_cross_reference
  • url:http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome
  • url:http://omim.org/entry/304700
  • url:http://www.ncbi.nlm.nih.gov/books/NBK1216/
  • url:http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome
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