Term Name: | Schaaf-Yang syndrome |
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Synonyms: | MAGEL2-related Prader-Willi-like syndrome, MAGEL2-related PWLS, 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. |
Ontology: | Human Disease [DOID:0111715] ( DOID:0111715 ) |