Before revision: RNU4-2 Syndrome or Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA) is an inherited disorder caused by mutations in the human gene RNU4-2, which encodes an RNA component of the major spliceosome.
After revision: RNU4-2 Syndrome or ReNU syndrome is a neurodevelopmental disorder caused by de novo variants in the human gene RNU4-2, which encodes an RNA component of the major spliceosome.