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
Displaying entries 11 - 17 of 17 in total
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024