Ogden syndrome
OGDNS

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Prevalence (%) of clinical parameters based on data from 1 references describing 23 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
Developmental delay multi 100 % 31127942 2022-01-08
Autism nervous 100 % 31127942 2022-01-08
Feeding difficulties nervous 100 % 31127942 2022-01-08
Psychomotor retardation nervous 100 % 31127942 2022-01-08
Eye abnormalities integumentary 88 % 31127942 2022-01-08
Broad eyebrows integumentary 78 % 31127942 2022-01-08
Broad philtra integumentary 78 % 31127942 2022-01-08
Seizures nervous 69 % 31127942 2022-01-08
Short stature skeletal 57 % 31127942 2022-01-08
Corpus callosum thining nervous 47 % 31127942 2022-01-08
Hearing loss nervous 42 % 31127942 2022-01-08
Long QT circulatory 37 % 31127942 2022-01-08
Atrial septum defect circulatory 17 % 31127942 2022-01-08
Pulmonary hypertension circulatory 6 % 31127942 2022-01-08
Tetralogy of Fallot circulatory 6 % 31127942 2022-01-08
Heart failure circulatory 4 % 31127942 2022-01-08



List of references:


Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hanyin Cheng, Leah Gottlieb, Elaine Marchi, Robert Kleyner, Puja Bhardwaj, Alan F Rope, Sarah Rosenheck, Sébastien Moutton, Christophe Philippe, Wafaa Eyaid, Fowzan S Alkuraya, Janet Toribio, Rafael Mena, Carlos E Prada, Holly Stessman, Raphael Bernier, Marieke Wermuth, Birgit Kauffmann, Bettina Blaumeiser, R Frank Kooy, Diana Baralle, Grazia M S Mancini, Simon J Conway, Fan Xia, Zhao Chen, Linyan Meng, Ljubisa Mihajlovic, Ronen Marmorstein, Gholson J Lyon,



Human molecular genetics - Sep 2019