preferred_name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
preferred_name_lc: pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
label: neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
label_lc: neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties