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Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
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