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GENATLAS PHENOTYPE

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
	neoplasia
Type	disease

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