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DO Term : developmental and epileptic encephalopathy 62 [DOID:0080420] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.
  • synonyms:
  • DEE62,
  • 617938,
  • OMIM:617938,
  • early infantile epileptic encephalopathy 62
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Disease

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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents