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Human Disease

developmental and epileptic encephalopathy 107

Term ID
DOID:0070393
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. (3)
References
Ontology
Human Disease   ( DOID:0070393 )
Relationships
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Genes Involved
Zebrafish Models