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Prevalence (%) of clinical parameters based on data from 1 references describing 21 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 |
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
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