OBO ID: DOID:0080452
Term Name: developmental and epileptic encephalopathy 28 Search Ontology:
Synonyms:
  • DEE28
  • early infantile epileptic encephalopathy 28
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. (2)
References:
Ontology: Human Disease   (DOID:0080452)
OTHER developmental and epileptic encephalopathy 28 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
WWOX Developmental and epileptic encephalopathy 28 616211
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None