| Metadata | |
|---|---|
| ID | DOID:0111715 |
| Name | Schaaf-Yang syndrome |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:770680004 |
| Subsets |
DO_rare_slim |
| Synonyms |
MAGEL2-related Prader-Willi-like syndrome [EXACT] MAGEL2-related PWLS [EXACT] PWLS [EXACT] SHFYNG [EXACT] |
| Parent Relationships |
is_a syndrome |