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Results 1 - 8 of 8 for Deafness dystonia syndrome
  1. Deafness-dystonia-optic neuronopathy syndrome 
    ... Opticoacoustic nerve atrophy with dementia Genetic Testing Registry: Deafness dystonia syndrome Mohr-Tranebjaerg syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  2. TIMM8A gene 
    ... K, Curran SP, Tranebjaerg L, Koehler CM. Human deafness dystonia syndrome is caused by a defect in assembly of ... 2007 Sep 12. Citation on PubMed Tranebjaerg L. Deafness-Dystonia-Optic Neuronopathy Syndrome. 2003 Feb 6 [updated 2019 Nov 21]. In: ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  3. BTK gene 
    ... gene known as TIMM8A. Mutations in TIMM8A cause deafness-dystonia-optic neuronopathy (DDON) syndrome, which is characterized by hearing loss, vision problems, ...
    https://medlineplus.gov/genetics/gene/btk - Genetics
  4. MEGDEL syndrome 
    ... mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Citation on PubMed
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  5. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... R, Tiranti V, Zeviani M. Depletion of mtDNA: syndromes and genes. ... encephalomyopathy, dystonia and deafness. Brain. 2007 Mar;130(Pt 3):862-74. ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  6. SUCLA2 gene 
    ... Health Condition MedlinePlus Genetics provides information about Leigh syndrome More About This ... with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar;130(Pt 3):862-74. ...
    https://medlineplus.gov/genetics/gene/sucla2 - Genetics
  7. SERAC1 gene 
    ... syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, ... trafficking and cause dystonia and deafness. Nat Genet. 2012 Jun 10;44( ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics
  8. RNAse T2-deficient leukoencephalopathy 
    ... caused by abnormalities in the inner ear (sensorineural deafness), seizures, ... megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4): ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics