OBO ID: DOID:0080413
Term Name: developmental and epileptic encephalopathy 18 Search Ontology:
Synonyms:
  • DEE18
  • early infantile epileptic encephalopathy 18
Definition: A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/23932106
References:
Ontology: Human Disease   (DOID:0080413)
OTHER developmental and epileptic encephalopathy 18 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SZT2 Developmental and epileptic encephalopathy 18 615476
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None