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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:0012554 | Absent thumbnail |
| HP:0100660 | Dyskinesia |
| HP:0100716 | Self-injurious behavior |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0011097 | Epileptic spasm |
| HP:0001252 | Hypotonia |
| HP:0000505 | Visual impairment |
| HP:0003593 | Infantile onset |
| HP:0200134 | Epileptic encephalopathy |
| HP:0002344 | Progressive neurologic deterioration |
