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
Disease Ontology
DOID:0050562
Mondo Disease Ontology
MeSH
NCI Thesaurus
ORDO
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4158 MC2R melanocortin 2 receptor
6812 STXBP1 syntaxin binding protein 1
Related Glycoprotein

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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: April 7, 2025