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GENATLAS PHENOTYPE
last update : 03-09-2019
Symbol NS9
Location 14q21.3
Name Noonan syndrome 9
Corresponding gene SOS2
Main clinical features
  • short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects
  • mild short stature, webbed neck, and typical dysmorphic facial features, including downslanting palpebral fissures, hypertelorism, and ptosis, often cardiac defects, including septal defects, coarctation of the aorta, and pulmonary valve stenosis
  • ectodermal abnormalities were also noted in most patients, including curly hair, sparse eyebrows, hyperkeratosis pilaris, with developmental delay and/or learning disabilities
  • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    dermatology
    mental retardation
    Type disease
    Remark(s)