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References OMIM Gene GeneReviews HGMD HGNC
last update : 20-04-2010
Symbol NS6
Location 1p13.2
Name Noonan syndrome 6
Corresponding gene NRAS
Main clinical features
  • typical heart defect, either pulmonary stenosis or cardiomyopathy, typical craniofacial anomalies including hypertelorism, downward slant of palpebral fissures and ptosis, short and webbed neck
  • others : short stature, psychomotor retardation or speech delay, bleeding diasthesis, thorax deformity, cubitus valgus, low-set ears, low posterior hairline, cryptorchidism
  • neoplastic risk, increased risk of juvenile myelomonocytic leukemia
  • Genetic determination autosomal dominant
    Prevalence 0.5 p100 of all cases
    Function/system disorder cardiovascular
    connective tissue
    Type disease