developmental and epileptic encephalopathy 64

A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB

A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21.

Signs and symptoms

• Seizure
• Intellectual disability
• Global developmental delay
• Hypotonia
• Absent speech
• Microcephaly
• Inability to walk
• Developmental regression
• Paroxysmal dystonia
• Status epilepticus

Also known as: DEE64; early infantile epileptic encephalopathy 64