Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 13 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. Optic Nerve Disorders (National Library of Medicine)  
    The optic nerve is a bundle of more than 1 million nerve fibers that carry visual messages. You have one connecting the back of each eye (your retina) to ...
    https://medlineplus.gov/opticnervedisorders.html - Health Topics
  4. Hearing Disorders and Deafness (National Library of Medicine)  
    It's frustrating to be unable to hear well enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to hear. They ...
    https://medlineplus.gov/hearingdisordersanddeafness.html - Health Topics
  5. Dystonia (National Library of Medicine)  
    Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes ...
    https://medlineplus.gov/dystonia.html - Health Topics
  6. 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
  7. 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
  8. Mouth Disorders (National Library of Medicine)  
    Your mouth is one of the most important parts of your body. It has many different functions. It allows you to: Take in food and drink Breathe in air Start ...
    https://medlineplus.gov/mouthdisorders.html - Health Topics
  9. Succinate-CoA ligase deficiency 
    ... 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/.../succinate-coa-ligase-deficiency - Genetics
  10. 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
previous · 1 · 2 · next