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DO Term : congenital disorder of glycosylation type IIm [DOID:0070265] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23.
  • synonyms:
  • GARD:12403,
  • ORDO:356961,
  • CDGIIm,
  • epileptic encephalopathy, early infantile, 22,
  • congenital disorder of glycosylation type 2m,
  • 300896,
  • developmental and epileptic encephalopathy 22,
  • OMIM:300896,
  • CDG IIm,
  • SLC35A2-CDG,
  • EIEE22,
  • DEE22,
  • DOID:0080469
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