Term Name: | developmental and epileptic encephalopathy 72 |
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Synonyms: | DEE72, early infantile epileptic encephalopathy 72 |
Definition: | 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. |
Ontology: | Human Disease [DOID:0112208] ( DOID:0112208 ) |