OBO ID: DOID:0112218
Term Name: developmental and epileptic encephalopathy 83 Search Ontology:
Synonyms:
  • DEE83
  • early infantile epileptic encephalopathy 83
Definition: A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in UGP2 on chromosome 2p15. https://pubmed.ncbi.nlm.nih.gov/31820119/
References:
Ontology: Human Disease   (DOID:0112218)
OTHER developmental and epileptic encephalopathy 83 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
UGP2 Developmental and epileptic encephalopathy 83 618744
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None