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Prevalence (%) of clinical parameters based on data from 1 references describing 2 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 |
Facial dysmorphism |
multi |
100 % |
24716661 |
2024-05-13 |
|
Hypotonia |
nervous |
100 % |
24716661 |
2024-05-13 |
|
Immune deficiency |
lymphatic |
100 % |
24716661 |
2024-05-13 |
|
Seizures |
nervous |
100 % |
24716661 |
2024-05-13 |
|
Developmental delay |
nervous |
100 % |
24716661 |
2024-05-13 |
|
Cerebral atrophy |
nervous |
100 % |
24716661 |
2024-05-13 |
|
Corpus callosum thining |
nervous |
100 % |
24716661 |
2024-05-13 |
|
Optic nerve atrophy |
nervous |
100 % |
24716661 |
2024-05-13 |
|
Hearing loss |
nervous |
100 % |
24716661 |
2024-05-13 |
|
Hypogonadism |
endocrine |
100 % |
24716661 |
2024-05-13 |
|
Constipation |
digestive |
100 % |
24716661 |
2024-05-13 |
|
Fracture |
skeletal |
100 % |
24716661 |
2024-05-13 |
|
Hypogammaglobulinemia |
lymphatic |
100 % |
24716661 |
2024-05-13 |
|
Fever |
multi |
100 % |
24716661 |
2024-05-13 |
|
Recurrent infections |
lymphatic |
100 % |
24716661 |
2024-05-13 |
|
Low serum IgA |
lymphatic |
50 % |
24716661 |
2024-05-13 |
|
Low serum IgG |
lymphatic |
50 % |
24716661 |
2024-05-13 |
|
Low serum IgM |
lymphatic |
50 % |
24716661 |
2024-05-13 |
|
List of references:
Glycosylation, hypogammaglobulinemia, and resistance to viral infections. Mohammed A Sadat, Susan Moir, Tae-Wook Chun, Paolo Lusso, Gerardo Kaplan, Lynne Wolfe, Matthew J Memoli, Miao He, Hugo Vega, Leo J Y Kim, Yan Huang, Nadia Hussein, Elma Nievas, Raquel Mitchell, Mary Garofalo, Aaron Louie, Derek C Ireland, Claire Grunes, Raffaello Cimbro, Vyomesh Patel, Genevieve Holzapfel, Daniel Salahuddin, Tyler Bristol, David Adams, Beatriz E Marciano, Madhuri Hegde, Yuxing Li, Katherine R Calvo, Jennifer Stoddard, J Shawn Justement, Jerome Jacques, Debra A Long Priel, Danielle Murray, Peter Sun, Douglas B Kuhns, Cornelius F Boerkoel, John A Chiorini, Giovanni Di Pasquale, Daniela Verthelyi, Sergio D Rosenzweig,
The New England journal of medicine - Apr 2014
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