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DO Term : cortical dysplasia-focal epilepsy syndrome [DOID:0090130] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36.
  • synonyms:
  • 610042,
  • CDFE syndrome,
  • MESH:C567657,
  • ICD10CM:Q04.8,
  • PTHSL1,
  • ORDO:163681,
  • Pitt-Hopkins-like syndrome-1,
  • CDFES,
  • OMIM:610042
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