OBO ID: DOID:0080456
Term Name: developmental and epileptic encephalopathy 46 Search Ontology:
Synonyms:
  • DEE46
  • early infantile epileptic encephalopathy 46
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13. (2)
References:
Ontology: Human Disease   ( DOID:0080456 )
OTHER developmental and epileptic encephalopathy 46 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GRIN2D Developmental and epileptic encephalopathy 46 617162
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None