OBO ID: DOID:0080444
Term Name: developmental and epileptic encephalopathy 27 Search Ontology:
Synonyms:
  • DEE27
  • early infantile epileptic encephalopathy 27
Definition: A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12. (2)
References:
Ontology: Human Disease   ( DOID:0080444 )
OTHER developmental and epileptic encephalopathy 27 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GRIN2B Developmental and epileptic encephalopathy 27 616139
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None