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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:0002650 | Scoliosis |
| HP:0000252 | Microcephaly |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0012448 | Delayed myelination |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0002540 | Inability to walk |
| HP:0100543 | Cognitive impairment |
| HP:0001508 | Failure to thrive |
| HP:0004302 | Functional motor deficit |
