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DO Term : developmental and epileptic encephalopathy 87 [DOID:0112221] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21.
  • synonyms:
  • OMIM:618916,
  • DEE87,
  • 618916,
  • early infantile epileptic encephalopathy 87
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Ontology Term --> Direct children

Ontology Term --> Direct parents