OBO ID: DOID:0080282
Term Name: developmental and epileptic encephalopathy 56 Search Ontology:
Synonyms:
  • DEE56
  • early infantile epileptic encephalopathy 56
Definition: A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. https://www.ncbi.nlm.nih.gov/pubmed/28777935
References:
Ontology: Human Disease   (DOID:0080282)
OTHER developmental and epileptic encephalopathy 56 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
YWHAG Developmental and epileptic encephalopathy 56 617665
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None