Autosomal recessive spinocerebellar ataxia‐20 due to a novel SNX14 variant in an Indian girl

@article{Sait2022AutosomalRS,
  title={Autosomal recessive spinocerebellar ataxia‐20 due to a novel SNX14 variant in an Indian girl},
  author={Haseena Sait and Amita Moirangthem and Vinita Agrawal and Shubha R. Phadke},
  journal={American Journal of Medical Genetics Part A},
  year={2022},
  volume={188},
  pages={1909 - 1914}
}
Autosomal recessive spinocerebellar ataxia‐20 is a rare disorder having distinctive coarse facies in addition to intellectual disability and cerebellar ataxia, with less than 35 cases reported worldwide. It is caused by biallelic variants in the SNX14 gene and is classified under the group of autophagy disorders. We report a 9‐year‐old girl who presented with classic clinical features of autosomal recessive spinocerebellar ataxia‐20 and cerebellar atrophy on magnetic resonance imaging of brain… 
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TLDR
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