OBO ID: DOID:0080471
Term Name: developmental and epileptic encephalopathy 92 Search Ontology:
Synonyms:
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34. (2)
References:
Ontology: Human Disease   ( DOID:0080471 )
OTHER developmental and epileptic encephalopathy 92 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GABRB2 Developmental and epileptic encephalopathy 92 617829
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None