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Results 1 - 1 of 1 for "Hypotonia-cystinuria" syndrome
  1. SLC3A1 gene 
    ... SLC3A1 gene and the neighboring PREPL gene cause hypotonia-cystinuria syndrome. In addition to cystinuria, people with this condition ... PREPL gene, and the C2orf34 gene cause atypical hypotonia-cystinuria syndrome. In addition to the symptoms of hypotonia-cystinuria ...
    https://medlineplus.gov/genetics/gene/slc3a1 - Genetics