Term Name: | developmental and epileptic encephalopathy 60 |
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Synonyms: | DEE60, early infantile epileptic encephalopathy 60 |
Definition: | A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p. |
Ontology: | Human Disease [DOID:0080432] ( DOID:0080432 ) |