Developmental and epileptic encephalopathy 119

Definition

A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported variants are de novo. It is characterized by global developmental delay, hypotonia, impaired intellectual development, microcephaly, autistic behavior, and characteristically complex seizures.

Also known as DEE119, developmental and epileptic encephalopathy 119, RNU2-2 developmental and epileptic encephalopathy, RNU2-2 syndrome — per MONDO

Also identified as

• OMIM 621304 per MONDO