preferred_name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
preferred_name_lc: pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome
label: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
label_lc: neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties