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developmental and epileptic encephalopathy 80
Summary
- Synonym
-
- DEE80
- GPIBD20
- early infantile epileptic encephalopathy 80
- glycosylphosphatidylinositol biosynthesis defect 20
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112216
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q92521 | GPI mannosyltransferase 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000154 | Wide mouth |
| HP:0000218 | High palate |
| HP:0000280 | Coarse facial features |
| HP:0000293 | Full cheeks |
| HP:0000307 | Pointed chin |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000341 | Narrow forehead |
| HP:0000343 | Long philtrum |
