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DO Term : developmental and epileptic encephalopathy 9 [DOID:0060848] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22.
  • synonyms:
  • EFMR,
  • GARD:10806,
  • DEE9,
  • ORDO:101039,
  • early infantile female-limited epilecptic encephalopathy,
  • OMIM:300088,
  • early infantile epileptic encephalopathy 9,
  • female restricted epilepsy with mental retardation,
  • 300088,
  • EIEE9,
  • Juberg Hellman syndrome
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Ontology Term --> Direct children

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