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DO Term : developmental and epileptic encephalopathy 101 [DOID:0070387] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34.
  • synonyms:
  • 619814,
  • OMIM:619814,
  • early infantile epileptic encephalopathy 101,
  • DEE101
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