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Prevalence (%) of clinical parameters based on data from 1 references describing 5 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 |
| Psychomotor retardation | nervous | 100 % | 25411445 | 2016-09-02 | |
| Hypotonia | nervous | 100 % | 25411445 | 2016-09-02 | |
| Seizures | nervous | 100 % | 25411445 | 2016-09-02 | |
| Poor eye contact | nervous | 60 % | 25411445 | 2016-09-02 | |
| Microcephaly | nervous | 40 % | 25411445 | 2016-09-02 | |
| Spasticity | nervous | 40 % | 25411445 | 2016-09-02 | |
| Hyperactive reflexes | nervous | 40 % | 25411445 | 2016-09-02 | |
| Corpus callosum thining | nervous | 20 % | 25411445 | 2016-09-02 | |
| Demyelination | nervous | 20 % | 25411445 | 2016-09-02 | |
| Cerebral atrophy | nervous | 20 % | 25411445 | 2016-09-02 |
List of references:
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Cyril Mignot, Laetitia Lambert, Laurent Pasquier, Thierry Bienvenu, Andrée Delahaye-Duriez, Boris Keren, Jérémie Lefranc, Aline Saunier, Lila Allou, Virginie Roth, Mylène Valduga, Aissa Moustaïne, Stéphane Auvin, Catherine Barrey, Sandra Chantot-Bastaraud, Nicolas Lebrun, Marie-Laure Moutard, Marie-Christine Nougues, Anne-Isabelle Vermersch, Bénédicte Héron, Eva Pipiras, Delphine Héron, Laurence Olivier-Faivre, Jean-Louis Guéant, Philippe Jonveaux, Christophe Philippe,
Journal of medical genetics - Jan 2015