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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43426 | Synaptojanin-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000826 | Precocious puberty |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001266 | Choreoathetosis |
| HP:0001272 | Cerebellar atrophy |
| HP:0001302 | Pachygyria |
| HP:0001332 | Dystonia |
| HP:0001336 | Myoclonus |
