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Results 1 - 4 of 4 for Autosomal recessive spinocerebellar ataxia 20
  1. Ataxia with oculomotor apraxia 
    ... with oculomotor apraxia and hypoalbuminemia Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Ataxia-oculomotor apraxia 3 ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  2. Infantile-onset spinocerebellar ataxia 
    ... L. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet. 2005 Oct 15;14(20):2981-90. doi: 10.1093/hmg/ddi328. Epub 2005 Aug 31. Citation on PubMed
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  3. TWNK gene 
    ... Spelbrink JN, Lonnqvist T, Peltonen L. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet. 2005 Oct 15;14(20):2981-90. doi: 10.1093/hmg/ddi328. Epub ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  4. Huntington's disease-like 
    ... the gene. HDL3 is probably inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/genetics/condition/huntingtons-disease-like - Genetics