Jaeken Syndrome |
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Prevalence (%) of clinical parameters based on data from 1 references describing 20 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 | 95 % | 11134235 | 2017-01-05 | |
| Cerebellar atrophy | nervous | 90 % | 11134235 | 2017-01-05 | |
| Hypotonia | nervous | 85 % | 11134235 | 2017-01-05 | |
| Strabismus | nervous | 80 % | 11134235 | 2017-01-05 | |
| Steatosis | digestive | 80 % | 11134235 | 2017-01-05 | |
| Liver fibrosis | digestive | 80 % | 11134235 | 2017-01-05 | |
| Retinitis pigmentosa | nervous | 70 % | 11134235 | 2017-01-05 | |
| Kidney cysts | urinary | 69 % | 11134235 | 2017-01-05 | |
| Failure to thrive | multi | 65 % | 11134235 | 2017-01-05 | |
| Hepatomegaly | digestive | 60 % | 11134235 | 2017-01-05 | |
| Bossed forehead | skeletal | 55 % | 11134235 | 2017-01-05 | |
| Large ears | integumentary | 55 % | 11134235 | 2017-01-05 | |
| Thin lips | integumentary | 55 % | 11134235 | 2017-01-05 | |
| Areflexia | nervous | 55 % | 11134235 | 2017-01-05 | |
| Intestinal villous atrophy | digestive | 40 % | 11134235 | 2017-01-05 | |
| Tubulopathy | urinary | 38 % | 11134235 | 2017-01-05 | |
| Seizures | nervous | 25 % | 11134235 | 2017-01-05 | |
| Diarrhea | digestive | 25 % | 11134235 | 2017-01-05 | |
| Pericarditis | circulatory | 25 % | 11134235 | 2017-01-05 | |
| Vomiting | digestive | 20 % | 11134235 | 2017-01-05 | |
| Cirrhosis | digestive | 20 % | 11134235 | 2017-01-05 | |
| Edema | multi | 10 % | 11134235 | 2017-01-05 | |
| Cardiomyopathy | circulatory | 10 % | 11134235 | 2017-01-05 | |
| Steatorrhoea | digestive | 6 % | 11134235 | 2017-01-05 |
List of references:
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.
P de Lonlay, N Seta, S Barrot, B Chabrol, V Drouin, B M Gabriel, H Journel, M Kretz, J Laurent, M Le Merrer, A Leroy, D Pedespan, P Sarda, N Villeneuve, J Schmitz, E van Schaftingen, G Matthijs, J Jaeken, C Korner, A Munnich, J M Saudubray, V Cormier-Daire,
Journal of medical genetics - Jan 2001