label: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
label_lc: pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
description: "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy."