Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:nervous_system
development |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2012
|
| gptkbp:hasOrphanetID |
ORPHA:404447
|
| https://www.w3.org/2000/01/rdf-schema#label |
Lamb-Shaffer syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
SOX5 gene
|
| gptkbp:namedAfter |
Annie Lamb
Lisa Shaffer |
| gptkbp:OMIM |
616803
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
hypotonia
intellectual disability developmental delay distinctive facial features speech delay behavioral problems autistic features |
| gptkbp:bfsParent |
gptkb:SOX5
|
| gptkbp:bfsLayer |
7
|