developmental and epileptic encephalopathy 84

A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_bas

A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14.

Signs and symptoms

• Seizure
• Delayed ability to sit
• Epileptic encephalopathy
• Axial hypotonia
• Epileptic spasm
• Hypsarrhythmia
• Delayed CNS myelination
• Blepharophimosis
• Ventriculomegaly
• Chorea

Also known as: DEE84; Jamuar syndrome; early infantile epileptic encephalopathy 84