developmental and epileptic encephalopathy 119
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.
What is developmental and epileptic encephalopathy 119?
developmental and epileptic encephalopathy 119 is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.
If you think you may have developmental and epileptic encephalopathy 119, speak with a qualified healthcare provider for evaluation and guidance.
Symptoms that may be associated with developmental and epileptic encephalopathy 119
When to seek medical care
Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.