Mito DB

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

Add new symptom/sign to this disease

Select symptom from list or write it in the box		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 - 2014