OBO ID: DOID:0080425
Term Name: developmental and epileptic encephalopathy 47 Search Ontology:
Synonyms:
  • DEE47
  • early infantile epileptic encephalopathy 47
Definition: A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. (2)
References:
Ontology: Human Disease   ( DOID:0080425 )
OTHER developmental and epileptic encephalopathy 47 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FGF12 Developmental and epileptic encephalopathy 47 617166
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None