Version: 8.0.0
Date: Tue Jan 28 2025
developmental and epileptic encephalopathy 104
DOID:0070390
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

developmental and epileptic encephalopathy 104

Definition
A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21.
Synonyms
  • DEE104
  • early infantile epileptic encephalopathy 104
Cross References
Parent Terms
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None
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