Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
females less severely
males more severely |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:eponymOf |
Coffin-Lowry
|
| gptkbp:first_described_in_year |
1966
|
| gptkbp:firstDescribed |
A. Lowry
Grange S. Coffin |
| https://www.w3.org/2000/01/rdf-schema#label |
Coffin-Lowry syndrome
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
X-linked dominant
|
| gptkbp:MeSH_ID |
D003082
|
| gptkbp:mutationAssociatedWith |
RPS6KA3 gene
|
| gptkbp:OMIM |
303600
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
distinct facial features
hypotonia intellectual disability short stature skeletal abnormalities delayed development stimulus-induced drop attacks |
| gptkbp:treatment |
supportive care
symptom management |
| gptkbp:bfsParent |
gptkb:ENSG00000139132
gptkb:X-linked_intellectual_disability |
| gptkbp:bfsLayer |
7
|