developmental and epileptic encephalopathy 119

A developmental and epileptic encephalopathy that is characterized by global developmental delay, impaired intellectual development, microcephaly, autistic behavior, and seizures and that has_material_basis_in heterozygous mutation in the RNU2-2 gene on chromo

A developmental and epileptic encephalopathy that is characterized by global developmental delay, impaired intellectual development, microcephaly, autistic behavior, and seizures and that has_material_basis_in heterozygous mutation in the RNU2-2 gene on chromosome 11q12.

Signs and symptoms

• Poor head control
• Increased body weight
• Macrodontia
• Dystonia
• Focal impaired awareness seizure
• Generalized hypotonia
• Ventouse delivery
• Nystagmus
• Long fingers
• Isometric tremor