Term Name: | developmental and epileptic encephalopathy 30 |
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Synonyms: | DEE30, early infantile epileptic encephalopathy 30 |
Definition: | A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. |
Ontology: | Human Disease [DOID:0080465] ( DOID:0080465 ) |