Schaaf-Yang syndrome

Term ID

DOID:0111715

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. https://www.ncbi.nlm.nih.gov/pubmed/27195816

References

• GARD:13316
• OMIM:615547
• ORDO:398069
• SNOMEDCT_US_2023_03_01:770680004
• UMLS_CUI:C3809877

Ontology

Human Disease   ( DOID:0111715 )