developmental and epileptic encephalopathy 72

A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in h

A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12.

Signs and symptoms

• Cerebral atrophy
• Hypsarrhythmia
• Delayed ability to walk
• Global developmental delay
• Infantile spasms
• Delayed ability to sit
• Axial hypotonia
• Hyperkinetic movements
• Astigmatism
• Dysphagia

Also known as: DEE72; early infantile epileptic encephalopathy 72