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Results 1 - 2 of 2 for "PURA-related" severe neonatal "hypotonia-seizures-encephalopathy" syndrome
Did you mean "para-related" severe neonatal "hypotonia-seizures-encephalopathy" syndrome?
  1. PURA syndrome 
    ... disorder in their family. PURA-related neurodevelopmental disorder PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Genetic Testing Registry: PURA-related severe neonatal hypotonia- ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  2. 5q31.3 microdeletion syndrome 
    ... due to 5q31.3 microdeletion Genetic Testing Registry: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome National Organization for Rare Disorders (NORD) PubMed Bonaglia ...
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome - Genetics