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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:0000582 | Upslanted palpebral fissure |
| HP:0001182 | Tapered finger |
| HP:0001199 | Triphalangeal thumb |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001284 | Areflexia |
| HP:0001290 | Generalized hypotonia |
| HP:0001508 | Failure to thrive |
| HP:0001510 | Growth delay |
