Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
adults
children |
| gptkbp:alsoKnownAs |
NF1-like syndrome
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:differentialDiagnosis |
gptkb:neurofibromatosis_type_1
|
| gptkbp:excludes |
gptkb:Lisch_nodules
neurofibromas optic gliomas |
| gptkbp:firstDescribed |
2007
|
| https://www.w3.org/2000/01/rdf-schema#label |
Legius syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:SPRED1_gene
|
| gptkbp:namedAfter |
Eric Legius
|
| gptkbp:OMIM |
611431
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
learning disabilities
macrocephaly café-au-lait macules freckling |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:Neurofibromatosis_type_1
|
| gptkbp:bfsLayer |
6
|