developmental and epileptic encephalopathy 106

A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous

A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35.

Signs and symptoms

• Cerebellar hypoplasia
• Global developmental delay
• Intellectual disability
• Hypotonia
• Absent speech
• Infantile spasms
• Esodeviation
• Postnatal growth retardation
• Bilateral tonic-clonic seizure
• Microcephaly

Also known as: DEE106; early infantile epileptic encephalopathy 106