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DO Term : developmental and epileptic encephalopathy 41 [DOID:0080442] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13.
  • synonyms:
  • OMIM:617105,
  • DEE41,
  • 617105,
  • early infantile epileptic encephalopathy 41
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents