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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:0000252 | Microcephaly |
| HP:0000340 | Sloping forehead |
| HP:0000463 | Anteverted nares |
| HP:0000486 | Strabismus |
| HP:0000729 | Autistic behavior |
| HP:0000752 | Hyperactivity |
| HP:0000826 | Precocious puberty |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001257 | Spasticity |
| 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 |
