Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 17-09-2013
Symbol NS8
Location 1q22
Name Noonan syndrome 8
Corresponding gene RIT1
Main clinical features
  • short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy, with or without intellectual disabilities
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    mental retardation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function  
    Remark(s)