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Results 1 - 5 of 5 for Spinocerebellar "ataxia," autosomal recessive 28
  1. Infantile-onset spinocerebellar ataxia 
    ... Testing Registry: Infantile onset spinocerebellar ataxia Infantile-onset ... maternal inheritance. Can J Neurol Sci. 2009 Jul;36(4):409-28. doi: 10.1017/s0317167100007733. Citation on PubMed Finsterer ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  2. Friedreich ataxia 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. FA FRDA Friedreich spinocerebellar ataxia Friedrich's ataxia Genetic Testing Registry: Friedreich ataxia ...
    https://medlineplus.gov/genetics/condition/friedreich-ataxia - Genetics
  3. Boucher-Neuhäuser syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry ... hypogonadotropic hypogonadism Spinocerebellar ataxia, hypogonadotropic hypogonadism, ...
    https://medlineplus.gov/.../condition/boucher-neuhauser-syndrome - Genetics
  4. TWNK gene 
    ... Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  5. 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