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DO Term : developmental and epileptic encephalopathy 71 [DOID:0112207] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2.
  • synonyms:
  • glutaminase deficiency with neonatal epileptic encephalopathy,
  • OMIM:618328,
  • 618328,
  • DEE71,
  • early infantile epileptic encephalopathy 71
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