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Subject Item

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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 NEUROD2 on chromosome 17q12.

obo:hasDbXref

url:https://pubmed.ncbi.nlm.nih.gov/30323019/