Pura Syndrome

Pura Syndrome, also known as pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome, is related to neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties and hypotonia, and has symptoms including myoclonus and seizures. An important gene associated with Pura Syndrome is PURA (Purine Rich Element Binding Protein A). Affiliated tissues include heart and brain, and related phenotypes are intellectual disability and absent speech