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DO Term : developmental and epileptic encephalopathy 64 [DOID:0070375] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21.
  • synonyms:
  • DEE64,
  • OMIM:618004,
  • 618004,
  • early infantile epileptic encephalopathy 64
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents