Congenital Disorder of Glycosylation, Type IIb
CDG2B

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Prevalence (%) of clinical parameters based on data from 1 references describing 2 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
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