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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:0000347 | Micrognathia |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000377 | Abnormal pinna morphology |
| HP:0000396 | Overfolded helix |
| HP:0000431 | Wide nasal bridge |
| HP:0000505 | Visual impairment |
| HP:0000520 | Proptosis |
| HP:0000543 | Optic disc pallor |
