Term Name: | developmental and epileptic encephalopathy 47 |
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Synonyms: | DEE47, early infantile epileptic encephalopathy 47 |
Definition: | A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. |
Ontology: | Human Disease [DOID:0080425] ( DOID:0080425 ) |