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developmental and epileptic encephalopathy 12
Summary
- Synonym
-
- DEE12
- early infantile epileptic encephalopathy 12
- Definition
- A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080459
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008936 | Axial hypotonia |
| HP:0200134 | Epileptic encephalopathy |
| HP:0001347 | Hyperreflexia |
| HP:0003593 | Infantile onset |
