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DO Term : developmental and epileptic encephalopathy 8 [DOID:0080215] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1.
  • synonyms:
  • early infantile epileptic encephalopathy 8,
  • OMIM:300607,
  • 300607,
  • EIEE8,
  • DEE8
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents