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Prevalence (%) of clinical parameters based on data from 1 references describing 23 individuals
Add new symptom/sign to this disease
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 |
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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
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