Schaaf-Yang syndrome (DOID:0111715)
Alliance: disease page
Synonyms: MAGEL2-related Prader-Willi-like syndrome; MAGEL2-related PWLS; PWLS; SHFYNG
Alt IDs: OMIM:615547, ORDO:398069, UMLS_CUI:C3809877
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.