Noonan syndrome

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Prevalence (%) of clinical parameters based on data from 3 references describing 283 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hypertelorism nervous 74 % 1446772 2013-07-10
Bruising integumentary 70 % 16990350 2013-07-10
Pulmonary stenosis circulatory 66 % 23750712 2013-07-10
Pulmonary stenosis circulatory 65 % 16990350 2013-07-10
Myopia nervous 53 % 16990350 2013-07-10
Ptosis nervous 48 % 1446772 2013-07-10
Strabismus nervous 48 % 1446772 2013-07-10
Prominent corneal nerves nervous 46 % 1446772 2013-07-10
Epicanthal fold integumentary 39 % 1446772 2013-07-10
Downward sloping palpebral apertures nervous 38 % 1446772 2013-07-10
Amblyopia nervous 33 % 1446772 2013-07-10
Cardiomyopathy circulatory 19 % 16990350 2013-07-10
Hypertrophic cardiomyopathy circulatory 19 % 16990350 2013-07-10
Dental caries digestive 15 % 16990350 2013-07-10
Cardiomyopathy circulatory 14 % 23750712 2013-07-10
Hypertrophic cardiomyopathy circulatory 14 % 23750712 2013-07-10
Hypermetropia nervous 14 % 16990350 2013-07-10
Scoliosis skeletal 13 % 16990350 2013-07-10
Seizures nervous 13 % 16990350 2013-07-10
Nystagmus nervous 9 % 1446772 2013-07-10
Cataract nervous 8 % 1446772 2013-07-10
Conductive hearing loss nervous 4 % 16990350 2013-07-10
Anterior stromal dystrophy nervous 4 % 1446772 2013-07-10
Hearing loss nervous 3 % 16990350 2013-07-10
Panuveitis nervous 2 % 1446772 2013-07-10



List of references:


Ocular manifestations of Noonan syndrome.
N B Lee, L Kelly, M Sharland,



Eye (London, England) - 1992



The natural history of Noonan syndrome: a long-term follow-up study.
A C Shaw, K Kalidas, A H Crosby, S Jeffery, M A Patton,



Archives of disease in childhood - Feb 2007



Cardiac findings in Noonan syndrome on long-term follow-up.
John L Colquitt, Jacqueline A Noonan,



Congenital heart disease -