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Up to: Genetic developmental and epileptic encephalopathy
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.
This condition has no sub-types.