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Results 1 - 1 of 1 for Neurodevelopmental disorder with "epilepsy," "spasticity," brain atrophy
  1. STXBP1 encephalopathy 
    ... with STXBP1 encephalopathy include features of autism spectrum disorder; weak muscle tone ... of STXBP1 encephalopathy with epilepsy is unknown. More than 280 individuals with this ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics