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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43426 | Synaptojanin-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002510 | Spastic tetraplegia |
| HP:0003623 | Neonatal onset |
| HP:0011968 | Feeding difficulties |
| HP:0002187 | Intellectual disability, profound |
| HP:0003236 | Elevated circulating creatine kinase concentration |
