Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndromic intellectual disability |
| gptkbp:causedBy |
mutation in SMS gene
|
| gptkbp:containsGene |
SMS
|
| gptkbp:firstDescribed |
1969
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Snyder-Robinson syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:namedAfter |
gptkb:William_Snyder
Arthur Robinson |
| gptkbp:OMIM |
309583
|
| gptkbp:symptom |
gptkb:bone
intellectual disability seizures skeletal abnormalities speech delay muscle hypotonia gait abnormalities facial dysmorphism |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:X-linked_intellectual_disability
|
| gptkbp:bfsLayer |
7
|