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Prevalence (%) of clinical parameters based on data from 1 references describing 21 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 |
| Cataract | nervous | 100 % | 16282978 | 2018-08-23 | |
| Strabismus | nervous | 100 % | 16282978 | 2018-08-23 | |
| Psychomotor retardation | nervous | 100 % | 16282978 | 2018-08-23 | |
| Hypotonia | nervous | 100 % | 16282978 | 2018-08-23 | |
| Ataxia | nervous | 100 % | 16282978 | 2018-08-23 | |
| Myopathy | skeletal | 100 % | 16282978 | 2018-08-23 | |
| Hypogonadism | reproductive | 100 % | 16282978 | 2018-08-23 | |
| Cerebellar atrophy | nervous | 100 % | 16282978 | 2018-08-23 | |
| Increased blood CK | circulatory | 76 % | 16282978 | 2018-08-23 | |
| Nystagmus | nervous | 75 % | 16282978 | 2018-08-23 | |
| Short stature | skeletal | 57 % | 16282978 | 2018-08-23 | |
| Spasticity | nervous | 33 % | 16282978 | 2018-08-23 | |
| Facial dysmorphism | skeletal | 29 % | 16282978 | 2018-08-23 | |
| Microcephaly | nervous | 5 % | 16282978 | 2018-08-23 |
List of references:
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Anna-Kaisa Anttonen, Ibrahim Mahjneh, Riikka H Hämäläinen, Clotilde Lagier-Tourenne, Outi Kopra, Laura Waris, Mikko Anttonen, Tarja Joensuu, Hannu Kalimo, Anders Paetau, Lisbeth Tranebjaerg, Denys Chaigne, Michel Koenig, Orvar Eeg-Olofsson, Bjarne Udd, Mirja Somer, Hannu Somer, Anna-Elina Lehesjoki,
Nature genetics - Dec 2005