| Metadata | |
|---|---|
| ID | DOID:0080413 |
| Name | developmental and 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DEE18 [EXACT] early infantile epileptic encephalopathy 18 [EXACT] |
| Parent Relationships |