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DO Term : developmental and epileptic encephalopathy 68 [DOID:0112204] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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,
  • 618201,
  • early infantile epileptic encephalopathy 68,
  • OMIM:618201
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents