OBO ID: DOID:0080291
Term Name: developmental and epileptic encephalopathy 59 Search Ontology:
Synonyms:
  • DEE59
  • early infantile epileptic encephalopathy 59
Definition: A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/25262651
References:
Ontology: Human Disease   (DOID:0080291)
OTHER developmental and epileptic encephalopathy 59 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GABBR2 Developmental and epileptic encephalopathy 59 617904
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None