Term Name: | developmental and epileptic encephalopathy 24 |
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Synonyms: | DEE24, early infantile epileptic encephalopathy 24 |
Definition: | A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12. |
Ontology: | Human Disease [DOID:0080429] ( DOID:0080429 ) |