Noonan syndrome 9

GPTKB entity

Statements (13)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:associatedWith gptkb:SOS2
gptkbp:causedBy mutation in SOS2 gene
https://www.w3.org/2000/01/rdf-schema#label Noonan syndrome 9
gptkbp:inheritance autosomal dominant
gptkbp:OMIM 616559
gptkbp:partOf Noonan syndrome spectrum
gptkbp:symptom gptkb:atrial_septal_defect
short stature
developmental delay
distinctive facial features
gptkbp:bfsParent gptkb:SOS2_gene
gptkbp:bfsLayer 7