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DO Term : developmental and epileptic encephalopathy 2 [DOID:0080467] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.
  • synonyms:
  • DEE2,
  • OMIM:300672,
  • X-linked infantile spasm syndrome 2,
  • early infantile epileptic encephalopathy 2,
  • 300672,
  • EIEE2
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