Search Ontology:
Human Disease

developmental and epileptic encephalopathy 80

Term ID
DOID:0112216
Synonyms
  • DEE80
  • early infantile epileptic encephalopathy 80
  • glycosylphosphatidylinositol biosynthesis defect 20
  • GPIBD20
Definition
A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3. https://pubmed.ncbi.nlm.nih.gov/31256876/
References
Ontology
Human Disease   ( DOID:0112216 )
Relationships
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Genes Involved
Zebrafish Models