developmental and epileptic encephalopathy 107 (DOID:0070393)
Alliance: disease page
Synonyms: DEE107; early infantile epileptic encephalopathy 107
Alt IDs: OMIM:620033
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.