Version: 8.1.0
Date: Fri Apr 18 2025
developmental and epileptic encephalopathy 34
DOID:0080460
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

developmental and epileptic encephalopathy 34

Definition
A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.
Synonyms
  • DEE34
  • early infantile epileptic encephalopathy 34
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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