1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0080413 | developmental and epileptic encephalopathy 18 | 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. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0112202 | developmental and epileptic encephalopathy | An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. |