Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:associatedWith |
gptkb:autism_spectrum_disorder
hypotonia microcephaly feeding difficulties |
| gptkbp:characterizedBy |
intellectual disability
developmental delay distinctive facial features speech delay behavioral problems |
| gptkbp:firstDescribed |
2016
Witteveen et al. |
| https://www.w3.org/2000/01/rdf-schema#label |
Witteveen-Kolk syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
SIN3A gene
|
| gptkbp:OMIM |
616606
|
| gptkbp:prevalence |
very rare
|
| gptkbp:synonym |
SIN3A-related intellectual disability syndrome
|
| gptkbp:bfsParent |
gptkb:SIN3A
gptkb:Sin3A |
| gptkbp:bfsLayer |
8
|