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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:0009882 | Short distal phalanx of finger |
| HP:0009909 | Uplifted earlobe |
| HP:0010804 | Tented upper lip vermilion |
| HP:0010808 | Protruding tongue |
| HP:0011968 | Feeding difficulties |
| HP:0012402 | Increased urine alpha-ketoglutarate concentration |
