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Human Disease

developmental and epileptic encephalopathy 18

Term ID
DOID:0080413
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 )
Relationships
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Genes Involved
Zebrafish Models