Version: 8.0.0
Date: Tue Jan 28 2025
developmental and epileptic encephalopathy 68
DOID:0112204
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

developmental and epileptic encephalopathy 68

Definition
A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1.
Synonyms
  • DEE68
  • early infantile epileptic encephalopathy 68
Cross References
Parent Terms
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None
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