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Results 1 - 1 of 1 for "PURA-related" severe neonatal "hypotonia-seizures-encephalopathy" syndrome due to a point mutation
Did you mean "para-related" severe neonatal "hypotonia-seizures-encephalopathy" syndrome due to a point mutation?
  1. PURA syndrome 
    ... PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation National Organization for Rare Disorders (NORD) NEURODEVELOPMENTAL DISORDER ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics