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DO Term : early-onset vitamin B6-dependent epilepsy 1 [DOID:0080769] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.
  • synonyms:
  • EPEO1,
  • OMIM:617290,
  • PDE-PLPBP,
  • early-onset vitamin B6-dependent epilepsy,
  • 617290
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