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DO Term : developmental and epileptic encephalopathy 36 [DOID:0080470] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.
  • synonyms:
  • GARD:12401,
  • ORDO:324422,
  • early infantile epileptic encephalopathy 36,
  • OMIM:300884,
  • congenital disorder of glycosylation, type Is,
  • 300884
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