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West syndrome
Summary
- Definition
- An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
- Super Class
- infancy electroclinical syndrome
External Links
- Disease Ontology
- DOID:0050562
- Mondo Disease Ontology
- MeSH
- NCI Thesaurus
- ORDO
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 23236 | PLCB1 | phospholipase C beta 1 | |
| 26275 | HIBCH | 3-hydroxyisobutyryl-CoA hydrolase | |
| 51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P | |
| 55768 | NGLY1 | N-glycanase 1 | |
| 79868 | ALG13 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | |
| 91869 | RFT1 | RFT1 homolog | |
| 284098 | PIGW | phosphatidylinositol glycan anchor biosynthesis class W |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NP73 | UDP-N-acetylglucosamine transferase subunit ALG13 | |
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 |
