Robinow syndrome, autosomal dominant 2
GPTKB entity
Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alternativeName |
RRS2
Robinow syndrome type 2 |
| gptkbp:hasGeneticOrigin |
mutation in WNT5A
|
| https://www.w3.org/2000/01/rdf-schema#label |
Robinow syndrome, autosomal dominant 2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:WNT5A_gene
|
| gptkbp:OMIM |
616331
|
| gptkbp:onset |
congenital
|
| gptkbp:symptom |
short stature
facial dysmorphism vertebral segmentation defects mesomelic limb shortening genital hypoplasia |
| gptkbp:bfsParent |
gptkb:FZD2
gptkb:DVL3 |
| gptkbp:bfsLayer |
8
|