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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
External Links
- Disease Ontology
- DOID:0111715
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
