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Prevalence (%) of clinical parameters based on data from 1 references describing 3 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 |
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 |
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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
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