Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), Type B, 2 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 2 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 |
| Increased blood CK | circulatory | 100 % | 17878207 | 2024-06-14 | |
| Contracture | nervous | 100 % | 17878207 | 2024-05-14 | |
| non-walking | multi | 50 % | 17878207 | 2024-05-14 | |
| Muscle weakness | multi | 50 % | 17878207 | 2024-05-14 | |
| Cerebellar atrophy | nervous | 50 % | 17878207 | 2024-05-14 | |
| Microcephaly | nervous | 50 % | 17878207 | 2024-05-14 | |
| Micropenis | reproductive | 50 % | 17878207 | 2024-05-14 | |
| Cryptorchidism | reproductive | 50 % | 17878207 | 2024-05-14 | |
| Lissencephaly | nervous | 50 % | 17878207 | 2024-05-14 |
List of references:
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Caroline Godfrey, Emma Clement, Rachael Mein, Martin Brockington, Janine Smith, Beril Talim, Volker Straub, Stephanie Robb, Ros Quinlivan, Lucy Feng, Cecilia Jimenez-Mallebrera, Eugenio Mercuri, Adnan Y Manzur, Maria Kinali, Silvia Torelli, Susan C Brown, Caroline A Sewry, Kate Bushby, Haluk Topaloglu, Kathryn North, Stephen Abbs, Francesco Muntoni,
Brain : a journal of neurology - Oct 2007