OBO ID: DOID:0112216
Term Name: developmental and epileptic encephalopathy 80 Search Ontology:
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 PIGB on chromosome 15q21.3. https://pubmed.ncbi.nlm.nih.gov/31256876/
References:
Ontology: Human Disease   (DOID:0112216)
OTHER developmental and epileptic encephalopathy 80 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIGB Developmental and epileptic encephalopathy 80 618580
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None