Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
both sexes
|
| gptkbp:alsoKnownAs |
SC phocomelia
pseudothalidomide syndrome |
| gptkbp:associatedWith |
mitotic abnormalities
premature centromere separation |
| gptkbp:characterizedBy |
intellectual disability
microcephaly cleft lip cleft palate craniofacial abnormalities limb malformations growth retardation |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1919
John Bingham Roberts |
| https://www.w3.org/2000/01/rdf-schema#label |
Roberts syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
ESCO2 gene
|
| gptkbp:OMIM |
268300
|
| gptkbp:prevalence |
very rare
|
| gptkbp:prognosis |
variable
|
| gptkbp:treatment |
supportive care
surgical intervention |
| gptkbp:bfsParent |
gptkb:ESCO1
gptkb:ESCO2 |
| gptkbp:bfsLayer |
7
|