Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
SYS
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2013
|
| gptkbp:frequency |
less than 1 in 1,000,000
|
| https://www.w3.org/2000/01/rdf-schema#label |
Schaaf-Yang syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
MAGEL2 gene
|
| gptkbp:namedAfter |
Christian Schaaf
Y. Jane Yang |
| gptkbp:OMIM |
615547
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Prader-Willi_syndrome
|
| gptkbp:symptom |
gptkb:autism_spectrum_disorder
respiratory problems hypotonia intellectual disability short stature hypogonadism feeding difficulties joint contractures |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy speech therapy nutritional support |
| gptkbp:bfsParent |
gptkb:MAGEL2
|
| gptkbp:bfsLayer |
8
|