Noonan syndrome-like disorder with NF1 mutations
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alternativeName |
Neurofibromatosis-Noonan syndrome
|
| gptkbp:firstDescribed |
1990s
|
| gptkbp:frequency |
rare
|
| gptkbp:hasClinicalOverlapWith |
gptkb:Neurofibromatosis_type_1
gptkb:Noonan_syndrome |
| gptkbp:hasOrphanetID |
ORPHA:96381
|
| https://www.w3.org/2000/01/rdf-schema#label |
Noonan syndrome-like disorder with NF1 mutations
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:NF1_gene
|
| gptkbp:OMIM |
601321
|
| gptkbp:symptom |
congenital heart defects
short stature learning disabilities café-au-lait spots facial dysmorphism |
| gptkbp:bfsParent |
gptkb:NF1_gene
|
| gptkbp:bfsLayer |
7
|