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.
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
DEE119
exact
RNU2-2 developmental and epileptic encephalopathy
exact
RNU2-2 syndrome
exact
developmental and epileptic encephalopathy 119
exact