Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
9q34.3 deletion syndrome
|
| gptkbp:category |
neurological disorder
syndrome rare disease |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2006
Tjitske Kleefstra |
| https://www.w3.org/2000/01/rdf-schema#label |
Kleefstra syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
9q34.3
|
| gptkbp:mutationAssociatedWith |
EHMT1 gene
|
| gptkbp:namedAfter |
Tjitske Kleefstra
|
| gptkbp:OMIM |
610253
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:autism_spectrum_disorder
obesity congenital heart defects hypotonia intellectual disability sleep disturbances delayed speech distinctive facial features behavioral problems |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy speech therapy |
| gptkbp:bfsParent |
gptkb:chromosome_9q34
gptkb:9q34 |
| gptkbp:bfsLayer |
7
|