Version: 8.0.0
Date: Tue Jan 28 2025
developmental and epileptic encephalopathy 17
DOID:0080450
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

developmental and epileptic encephalopathy 17

Definition
A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13.
Synonyms
  • DEE17
  • early infantile epileptic encephalopathy 17
Cross References
Parent Terms
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None
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