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DO Term : developmental and epileptic encephalopathy 79 [DOID:0112215] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12.
  • synonyms:
  • early infantile epileptic encephalopathy 79,
  • OMIM:618559,
  • DEE79,
  • 618559
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Ontology Term --> Direct children

Ontology Term --> Direct parents