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developmental and epileptic encephalopathy 30
Summary
- Synonym
-
- DEE30
- early infantile epileptic encephalopathy 30
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080465
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0001266 | Choreoathetosis |
| HP:0001272 | Cerebellar atrophy |
| HP:0001302 | Pachygyria |
| HP:0001332 | Dystonia |
| HP:0001337 | Tremor |
| HP:0001500 | Broad finger |
| HP:0001508 | Failure to thrive |
| HP:0001537 | Umbilical hernia |
| HP:0001629 | Ventricular septal defect |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 23236 | PLCB1 | phospholipase C beta 1 |
| 51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A |
| 6487 | ST3GAL3 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q |
