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DO Term : developmental and epileptic encephalopathy 7 [DOID:0080462] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.
  • synonyms:
  • ORDO:439218,
  • OMIM:613720,
  • KCNQ2-related epileptic encephalopathy,
  • 613720,
  • KCNQ2-related neonatal epileptic encephalopathy,
  • early infantile epileptic encephalopathy 7
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