Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties (NEDRIHF)

Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties, also known as pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation, is related to pura syndrome and autosomal dominant intellectual developmental disorder 31. An important gene associated with Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties is PURA (Purine Rich Element Binding Protein A). Affiliated tissues include brain and heart, and related phenotypes are seizure and global developmental delay