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developmental and epileptic encephalopathy 53
Summary
- Synonym
-
- DEE53
- early infantile epileptic encephalopathy 53
- Definition
- A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080464
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0009381 | Short finger |
| HP:0010174 | Broad phalanx of the toes |
| HP:0010818 | Generalized tonic seizure |
| HP:0010819 | Atonic seizure |
| HP:0010850 | EEG with spike-wave complexes |
| HP:0010851 | EEG with burst suppression |
| HP:0011169 | Generalized clonic seizure |
| HP:0011190 | Uni- and bilateral multifocal epileptiform discharges |
| HP:0012448 | Delayed myelination |
| HP:0012469 | Infantile spasms |
