OBO ID: DOID:0080413 |
Term Name: | developmental and epileptic encephalopathy 18 | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.