Term Name: | developmental and epileptic encephalopathy 107 |
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Synonyms: | DEE107, early infantile epileptic encephalopathy 107 |
Definition: | A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. |
Ontology: | Human Disease [DOID:0070393] ( DOID:0070393 ) |