Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), Type B, 2
MDDGB2

Contact us
 
Return to database




Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals







Add new symptom/sign to this disease

Select symptom from list or write it in the box
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
Elevated creatine kinase (CK) levels circulatory 100 % 17878207 2024-05-14
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