Version: 8.0.0
Date: Tue Jan 28 2025
developmental and epileptic encephalopathy 107
DOID:0070393
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

developmental and 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.
Synonyms
  • DEE107
  • early infantile epileptic encephalopathy 107
Cross References
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