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developmental and epileptic encephalopathy 34
Summary
- Synonym
-
- DEE34
- early infantile epileptic encephalopathy 34
- Definition
- A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080460
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002059 | Cerebral atrophy |
| HP:0006813 | Focal hemiclonic seizure |
| HP:0001252 | Hypotonia |
| HP:0011097 | Epileptic spasm |
| HP:0002521 | Hypsarrhythmia |
| HP:0000505 | Visual impairment |
| HP:0010821 | Focal emotional seizure with laughing |
| HP:0002376 | Developmental regression |
| HP:0012758 | Neurodevelopmental delay |
| HP:0001276 | Hypertonia |
