Version: 8.0.0
Date: Tue Jan 28 2025
developmental and epileptic encephalopathy 21
DOID:0080443
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

developmental and epileptic encephalopathy 21

Definition
A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.
Synonyms
  • DEE21
  • early infantile epileptic encephalopathy 21
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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