Mental Retardation X-Linked Syndromic Hedera Type
MRXSH

Contact us
 
Return to database




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







Add new symptom/sign to this disease

Select symptom from list or write it in the box
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