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developmental and epileptic encephalopathy 18
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080413
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000508 | Ptosis |
| HP:0001251 | Ataxia |
| HP:0000639 | Nystagmus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000717 | Autism |
| HP:0001315 | Reduced tendon reflexes |
| HP:0002133 | Status epilepticus |
| HP:0001268 | Mental deterioration |
| HP:0001558 | Decreased fetal movement |
| HP:0001263 | Global developmental delay |
