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Prevalence (%) of clinical parameters based on data from 1 references describing 3 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 |
| Hepatomegaly | digestive | 100 % | 29127204 | 2019-12-10 | |
| Splenomegaly | circulatory | 100 % | 29127204 | 2019-12-10 | |
| Cirrhosis | digestive | 100 % | 29127204 | 2019-12-10 | |
| Recurrent infections | lymphatic | 100 % | 29127204 | 2019-12-10 | |
| Cutis laxa | integumentary | 100 % | 29127204 | 2019-12-10 | |
| Increased blood transaminase | circulatory | 100 % | 29127204 | 2019-12-10 | |
| Jaundice | digestive | 67 % | 29127204 | 2019-12-10 | |
| Cognitive deficits | nervous | 67 % | 29127204 | 2019-12-10 | |
| Hypogammaglobulinemia | lymphatic | 67 % | 29127204 | 2019-12-10 | |
| Increased blood LDL | circulatory | 67 % | 29127204 | 2019-12-10 | |
| Ataxia | nervous | 33 % | 29127204 | 2019-12-10 | |
| Low set ears | integumentary | 33 % | 29127204 | 2019-12-10 | |
| Micrognathia | skeletal | 33 % | 29127204 | 2019-12-10 | |
| Flat and wide-set chest | integumentary | 33 % | 29127204 | 2019-12-10 | |
| Laterally facing nipples | integumentary | 33 % | 29127204 | 2019-12-10 | |
| Hypospadia | urinary | 33 % | 29127204 | 2019-12-10 |
List of references:
Mutations in the X-linked cause a glycosylation disorder with autophagic defects.
Maria A Rujano, Magda Cannata Serio, Ganna Panasyuk, Romain Péanne, Janine Reunert, Daisy Rymen, Virginie Hauser, Julien H Park, Peter Freisinger, Erika Souche, Maria Clara Guida, Esther M Maier, Yoshinao Wada, Stefanie Jäger, Nevan J Krogan, Oliver Kretz, Susana Nobre, Paula Garcia, Dulce Quelhas, Thomas D Bird, Wendy H Raskind, Michael Schwake, Sandrine Duvet, Francois Foulquier, Gert Matthijs, Thorsten Marquardt, Matias Simons,
The Journal of experimental medicine - Dec 2017