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MIRAGE
Schaaf-Yang syndrome

Summary
Synonym
  • MAGEL2-related PWLS
  • MAGEL2-related Prader-Willi-like syndrome
  • PWLS
  • SHFYNG
Definition
A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2.
Super Class
syndrome
Disease Ontology
DOID:0111715
Mondo Disease Ontology
UMLS
ORDO
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54551 MAGEL2 MAGE family member L2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9UJ55 MAGE-like protein 2
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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: April 6, 2026