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GENATLAS PHENOTYPE
last update : 07-11-2013
Symbol NGCS
Location 12q24.13
Name Noonan-like/multiple giant cell lesion syndrome
Corresponding gene PTPN11
Main clinical features
  • short stature, facial dysmorphy, congenital heart disease, hearing loss, developmental delay, mental retardation, central giant cells granulomas and in any cases, cherubism
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    dermatology
    osteo-articular
    Type disease
    Gene product
    Name protein tyrosine phosphatase, non receptor-type, 11
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense     affecting the cosensus sequence of the SHP2-active site
    Remark(s)