Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndromic intellectual disability |
| gptkbp:affects |
males predominantly
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1999
Andrew Christianson |
| https://www.w3.org/2000/01/rdf-schema#label |
Christianson syndrome
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:mutationAssociatedWith |
SLC9A6 gene
|
| gptkbp:OMIM |
300243
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Angelman_syndrome
|
| gptkbp:symptom |
intellectual disability
seizures ataxia developmental delay microcephaly feeding difficulties happy demeanor absent speech |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:SLC9C6
gptkb:X-linked_intellectual_disability |
| gptkbp:bfsLayer |
7
|